WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
dbSNP Id:
rs752912444
ExAC:
3:57882603 C / A
gnomAD v2:
3-57882603-C-A
gnomAD v4:
3-57896876-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.57896876C>A , CM000665.2:g.57896876C>A | GRCh38 |
| NC_000003.11:g.57882603C>A , CM000665.1:g.57882603C>A | GRCh37 |
| NC_000003.10:g.57857643C>A | NCBI36 |
| NG_042789.1:g.144621C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000417128.7:c.1331C>A | ENSP00000412829.3:p.Ala444Asp | |
| ENST00000438794.6:c.1394C>A | ENSP00000391886.2:p.Ala465Asp | |
| ENST00000465203.6:c.1394C>A | ENSP00000419849.2:p.Ala465Asp | |
| ENST00000475055.2:c.1331C>A | ENSP00000499520.2:p.Ala444Asp | |
| ENST00000670768.2:c.1331C>A | ENSP00000499553.2:p.Ala444Asp | |
| ENST00000705628.1:c.1445C>A | ENSP00000516144.1:p.Ala482Asp | |
| ENST00000705629.1:c.1271C>A | ENSP00000516145.1:p.Ala424Asp | |
| ENST00000705630.1:c.1445C>A | ENSP00000516146.1:p.Ala482Asp | |
| ENST00000705648.1:c.1280C>A | ENSP00000516147.1:p.Ala427Asp | |
| ENST00000705649.1:c.1445C>A | ENSP00000516148.1:p.Ala482Asp | |
| ENST00000705650.1:c.1280C>A | ENSP00000516149.1:p.Ala427Asp | |
| ENST00000705651.1:c.1220C>A | ENSP00000516150.1:p.Ala407Asp | |
| ENST00000705652.1:c.1445C>A | ENSP00000516151.1:p.Ala482Asp | |
| ENST00000705653.1:c.1286C>A | ENSP00000516152.1:p.Ala429Asp | |
| ENST00000705654.1:n.2883C>A | ||
| ENST00000417128.6:c.583C>A | ||
| ENST00000428312.6:c.1280C>A | ENSP00000398661.2:p.Ala427Asp | |
| ENST00000494088.6:c.-5C>A | ENSP00000418218.2:n.-5C>A | |
| ENST00000657480.1:c.*313C>A | ENSP00000499567.1:n.*313C>A | |
| ENST00000658689.1:c.218C>A | ||
| ENST00000659705.1:c.1394C>A | ENSP00000499241.1:p.Ala465Asp | |
| ENST00000659926.1:c.*133C>A | ENSP00000499233.1:n.*133C>A | |
| ENST00000662629.1:c.263C>A | ||
| ENST00000664084.1:c.*1082C>A | ENSP00000499727.1:n.*1082C>A | |
| ENST00000667800.1:c.1445C>A | ENSP00000499603.1:p.Ala482Asp | |
| ENST00000670768.1:c.340C>A | ||
| ENST00000671191.1:c.1445C>A MANE Select | ENSP00000499458.1:p.Ala482Asp | |
| ENST00000295951.7:c.1343C>A | ENSP00000295951.3:p.Ala448Asp | |
| ENST00000295952.7:c.1343C>A | ENSP00000295952.3:p.Ala448Asp | |
| ENST00000383718.7:c.1382C>A | ENSP00000373224.3:p.Ala461Asp | |
| ENST00000416658.5:c.216C>A | ||
| ENST00000417128.5:c.145C>A | ||
| ENST00000428312.5:c.1394C>A | ENSP00000398661.1:p.Ala465Asp | |
| ENST00000438794.5:c.129C>A | ||
| ENST00000449503.6:c.1280C>A | ENSP00000412945.2:p.Ala427Asp | |
| ENST00000459654.5:n.187C>A | ||
| ENST00000461354.5:c.-5C>A | ENSP00000417541.1:n.-5C>A | |
| ENST00000466255.1:c.-5C>A | ENSP00000420697.1:n.-5C>A | |
| ENST00000472546.5:n.195C>A | ||
| ENST00000494088.5:c.-5C>A | ENSP00000418218.1:n.-5C>A | |
| ENST00000495364.5:c.-5C>A | ENSP00000419543.1:n.-5C>A | |
| NM_001304420.1:c.1394C>A | NP_001291349.1:p.Ala465Asp | |
| NM_001304420.2:c.1394C>A | NP_001291349.1:p.Ala465Asp | |
| NM_001304421.1:c.1280C>A | NP_001291350.1:p.Ala427Asp | |
| NM_001304421.2:c.1280C>A | NP_001291350.1:p.Ala427Asp | |
| NM_001304422.1:c.-5C>A | NP_001291351.1:n.-5C>A | |
| NM_001304422.2:c.-5C>A | NP_001291351.1:n.-5C>A | |
| NM_001304423.1:c.-5C>A | NP_001291352.1:n.-5C>A | |
| NM_001304423.2:c.-5C>A | NP_001291352.1:n.-5C>A | |
| NM_001311178.1:c.-5C>A | NP_001298107.1:n.-5C>A | |
| NM_001311179.1:c.-5C>A | NP_001298108.1:n.-5C>A | |
| NM_007159.3:c.1343C>A | NP_009090.2:p.Ala448Asp | |
| NM_007159.4:c.1343C>A | NP_009090.2:p.Ala448Asp | |
| XM_005265456.3:c.1451C>A | XP_005265513.1:p.Ala484Asp | |
| XM_005265457.3:c.1445C>A | XP_005265514.1:p.Ala482Asp | |
| XM_005265458.3:c.1451C>A | XP_005265515.1:p.Ala484Asp | |
| XM_005265459.3:c.1400C>A | XP_005265516.1:p.Ala467Asp | |
| XM_005265460.3:c.1400C>A | XP_005265517.1:p.Ala467Asp | |
| XM_005265461.3:c.1394C>A | XP_005265518.1:p.Ala465Asp | |
| XM_005265462.3:c.1388C>A | XP_005265519.1:p.Ala463Asp | |
| XM_005265464.3:c.1382C>A | XP_005265521.1:p.Ala461Asp | |
| XM_005265465.3:c.1349C>A | XP_005265522.1:p.Ala450Asp | |
| XM_005265466.3:c.1343C>A | XP_005265523.1:p.Ala448Asp | |
| XM_005265467.3:c.1337C>A | XP_005265524.1:p.Ala446Asp | |
| XM_005265468.3:c.1451C>A | XP_005265525.1:p.Ala484Asp | |
| XM_005265470.3:c.1286C>A | XP_005265527.1:p.Ala429Asp | |
| XM_005265471.3:c.1280C>A | XP_005265528.1:p.Ala427Asp | |
| XM_005265472.3:c.1337C>A | XP_005265529.1:p.Ala446Asp | |
| XM_006713326.2:c.1343C>A | XP_006713389.1:p.Ala448Asp | |
| XM_011534103.1:c.1337C>A | XP_011532405.1:p.Ala446Asp | |
| XM_011534104.1:c.1349C>A | XP_011532406.1:p.Ala450Asp | |
| XM_011534105.1:c.1286C>A | XP_011532407.1:p.Ala429Asp | |
| XM_011534106.1:c.-5C>A | XP_011532408.1:n.-5C>A | |
| XM_011534107.1:c.-5C>A | XP_011532409.1:n.-5C>A | |
| XR_427291.2:n.2802C>A | ||
| XR_427292.2:n.2802C>A | ||
| XR_940502.1:n.2739C>A | ||
| XM_005265456.4:c.1451C>A | XP_005265513.1:p.Ala484Asp | |
| XM_005265457.4:c.1445C>A | XP_005265514.1:p.Ala482Asp | |
| XM_005265458.4:c.1451C>A | XP_005265515.1:p.Ala484Asp | |
| XM_005265459.4:c.1400C>A | XP_005265516.1:p.Ala467Asp | |
| XM_005265460.4:c.1400C>A | XP_005265517.1:p.Ala467Asp | |
| XM_005265461.4:c.1394C>A | XP_005265518.1:p.Ala465Asp | |
| XM_005265462.4:c.1388C>A | XP_005265519.1:p.Ala463Asp | |
| XM_005265464.4:c.1382C>A | XP_005265521.1:p.Ala461Asp | |
| XM_005265465.4:c.1349C>A | XP_005265522.1:p.Ala450Asp | |
| XM_005265466.4:c.1343C>A | XP_005265523.1:p.Ala448Asp | |
| XM_005265467.4:c.1337C>A | XP_005265524.1:p.Ala446Asp | |
| XM_005265468.4:c.1451C>A | XP_005265525.1:p.Ala484Asp | |
| XM_005265470.4:c.1286C>A | XP_005265527.1:p.Ala429Asp | |
| XM_005265471.4:c.1280C>A | XP_005265528.1:p.Ala427Asp | |
| XM_005265472.4:c.1337C>A | XP_005265529.1:p.Ala446Asp | |
| XM_006713326.3:c.1343C>A | XP_006713389.1:p.Ala448Asp | |
| XM_011534103.2:c.1337C>A | XP_011532405.1:p.Ala446Asp | |
| XM_011534104.2:c.1349C>A | XP_011532406.1:p.Ala450Asp | |
| XM_011534105.2:c.1286C>A | XP_011532407.1:p.Ala429Asp | |
| XM_011534106.2:c.-5C>A | XP_011532408.1:n.-5C>A | |
| XM_017007146.2:c.1445C>A | XP_016862635.1:p.Ala482Asp | |
| XM_017007147.2:c.1394C>A | XP_016862636.1:p.Ala465Asp | |
| XM_017007148.2:c.1400C>A | XP_016862637.1:p.Ala467Asp | |
| XM_017007149.2:c.1394C>A | XP_016862638.1:p.Ala465Asp | |
| XM_017007150.2:c.1394C>A | XP_016862639.1:p.Ala465Asp | |
| XM_017007151.2:c.1349C>A | XP_016862640.1:p.Ala450Asp | |
| XM_017007152.2:c.1343C>A | XP_016862641.1:p.Ala448Asp | |
| XM_017007153.2:c.1331C>A | XP_016862642.1:p.Ala444Asp | |
| XM_017007154.2:c.1331C>A | XP_016862643.1:p.Ala444Asp | |
| XM_017007155.2:c.1445C>A | XP_016862644.1:p.Ala482Asp | |
| XM_017007156.2:c.1451C>A | XP_016862645.1:p.Ala484Asp | |
| XM_017007157.2:c.1445C>A | XP_016862646.1:p.Ala482Asp | |
| XM_017007158.2:c.1286C>A | XP_016862647.1:p.Ala429Asp | |
| XM_017007159.2:c.1400C>A | XP_016862648.1:p.Ala467Asp | |
| XM_017007160.2:c.1280C>A | XP_016862649.1:p.Ala427Asp | |
| XM_017007161.2:c.1394C>A | XP_016862650.1:p.Ala465Asp | |
| XM_017007162.2:c.1400C>A | XP_016862651.1:p.Ala467Asp | |
| XM_017007163.2:c.1394C>A | XP_016862652.1:p.Ala465Asp | |
| XM_017007164.2:c.1343C>A | XP_016862653.1:p.Ala448Asp | |
| XM_017007165.2:c.1331C>A | XP_016862654.1:p.Ala444Asp | |
| XM_017007166.2:c.1331C>A | XP_016862655.1:p.Ala444Asp | |
| XM_017007167.2:c.1286C>A | XP_016862656.1:p.Ala429Asp | |
| XM_017007168.2:c.1280C>A | XP_016862657.1:p.Ala427Asp | |
| XM_017007169.2:c.1451C>A | XP_016862658.1:p.Ala484Asp | |
| XM_017007170.2:c.-5C>A | XP_016862659.1:n.-5C>A | |
| XR_001740259.2:n.2794C>A | ||
| XR_001740260.2:n.2794C>A | ||
| XR_001740261.2:n.2794C>A | ||
| XR_001740262.2:n.2788C>A | ||
| XR_001740263.2:n.2731C>A | ||
| NM_001304422.3:c.-5C>A | NP_001291351.1:n.-5C>A | |
| NM_001304423.3:c.-5C>A | NP_001291352.1:n.-5C>A | |
| NM_001304420.3:c.1394C>A | NP_001291349.1:p.Ala465Asp | |
| NM_001311178.2:c.-5C>A | NP_001298107.1:n.-5C>A | |
| NM_001311179.2:c.-5C>A | NP_001298108.1:n.-5C>A | |
| NM_001377538.1:c.1445C>A | NP_001364467.1:p.Ala482Asp | |
| NM_001377539.1:c.1445C>A | NP_001364468.1:p.Ala482Asp | |
| NM_001377540.1:c.1445C>A MANE Select | NP_001364469.1:p.Ala482Asp | |
| NM_001377541.1:c.1394C>A | NP_001364470.1:p.Ala465Asp | |
| NM_001377542.1:c.1394C>A | NP_001364471.1:p.Ala465Asp | |
| NM_001377545.1:c.1382C>A | NP_001364474.1:p.Ala461Asp | |
| NM_001377549.1:c.1343C>A | NP_001364478.1:p.Ala448Asp | |
| NM_001377551.1:c.1331C>A | NP_001364480.1:p.Ala444Asp | |
| NM_001377552.1:c.1331C>A | NP_001364481.1:p.Ala444Asp | |
| NM_001377555.1:c.1445C>A | NP_001364484.1:p.Ala482Asp | |
| NM_001377557.1:c.1280C>A | NP_001364486.1:p.Ala427Asp | |
| NM_001377559.1:c.1280C>A | NP_001364488.1:p.Ala427Asp | |
| NM_001377562.1:c.1394C>A | NP_001364491.1:p.Ala465Asp | |
| NM_001377921.1:c.1394C>A | NP_001364850.1:p.Ala465Asp | |
| NM_001377922.1:c.1382C>A | NP_001364851.1:p.Ala461Asp | |
| NM_001377923.1:c.1343C>A | NP_001364852.1:p.Ala448Asp | |
| NM_001377924.1:c.1331C>A | NP_001364853.1:p.Ala444Asp | |
| NM_001377925.1:c.1280C>A | NP_001364854.1:p.Ala427Asp | |
| NM_001377926.1:c.-5C>A | NP_001364855.1:n.-5C>A | |
| NM_001377927.1:c.-5C>A | NP_001364856.1:n.-5C>A | |
| NM_001377928.1:c.-5C>A | NP_001364857.1:n.-5C>A | |
| NM_007159.5:c.1343C>A | NP_009090.2:p.Ala448Asp | |
| NR_165328.1:n.2612C>A |