Linked Data
ClinVar Variation Id:
94816
dbSNP Id:
rs116283249
ExAC:
X:31496393 C / A
gnomAD v2:
X-31496393-C-A
gnomAD v3:
X-31478276-C-A
gnomAD v4:
X-31478276-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31478276C>A , CM000685.2:g.31478276C>A | GRCh38 |
| NC_000023.10:g.31496393C>A , CM000685.1:g.31496393C>A | GRCh37 |
| NC_000023.9:g.31406314C>A | NCBI36 |
| NG_012232.1:g.1866334G>T , LRG_199:g.1866334G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358062.7:c.3613G>T | ENSP00000350765.3:p.Ala1205Ser | |
| ENST00000682238.1:c.1387G>T | ENSP00000508124.1:p.Ala463Ser | |
| ENST00000683450.1:n.2232G>T | ||
| ENST00000683957.1:n.2259G>T | ||
| ENST00000684130.1:c.1387G>T | ENSP00000508037.1:p.Ala463Ser | |
| ENST00000343523.7:c.622G>T | ENSP00000340057.4:p.Ala208Ser | |
| ENST00000357033.9:c.8767G>T MANE Select | ENSP00000354923.3:p.Ala2923Ser | |
| ENST00000619831.5:c.4735G>T | ENSP00000479270.2:p.Ala1579Ser | |
| ENST00000620040.5:c.1387G>T | ENSP00000478150.2:p.Ala463Ser | |
| ENST00000680961.1:c.1387G>T | ENSP00000506386.1:p.Ala463Ser | |
| ENST00000681646.1:n.2428G>T | ||
| ENST00000343523.6:c.580G>T | ENSP00000340057.3:p.Ala194Ser | |
| ENST00000357033.8:c.8767G>T | ENSP00000354923.3:p.Ala2923Ser | |
| ENST00000358062.6:c.1855G>T | ENSP00000350765.2:p.Ala619Ser | |
| ENST00000359836.5:c.1387G>T | ENSP00000352894.1:p.Ala463Ser | |
| ENST00000378677.6:c.8755G>T | ENSP00000367948.2:p.Ala2919Ser | |
| ENST00000378707.7:c.1387G>T | ENSP00000367979.3:p.Ala463Ser | |
| ENST00000474231.5:c.1387G>T | ENSP00000417123.1:p.Ala463Ser | |
| ENST00000541735.5:c.1387G>T | ENSP00000444119.1:p.Ala463Ser | |
| ENST00000619831.4:c.8752G>T | ENSP00000479270.1:p.Ala2918Ser | |
| ENST00000620040.4:c.8764G>T | ENSP00000478150.1:p.Ala2922Ser | |
| NM_000109.3:c.8743G>T | NP_000100.2:p.Ala2915Ser | |
| NM_004006.2:c.8767G>T , LRG_199t1:c.8767G>T | NP_003997.1:p.Ala2923Ser | |
| NM_004009.3:c.8755G>T | NP_004000.1:p.Ala2919Ser | |
| NM_004010.3:c.8398G>T | NP_004001.1:p.Ala2800Ser | |
| NM_004011.3:c.4744G>T | NP_004002.2:p.Ala1582Ser | |
| NM_004012.3:c.4735G>T | NP_004003.1:p.Ala1579Ser | |
| NM_004013.2:c.1387G>T | NP_004004.1:p.Ala463Ser | |
| NM_004014.2:c.580G>T | NP_004005.1:p.Ala194Ser | |
| NM_004020.3:c.1387G>T | NP_004011.2:p.Ala463Ser | |
| NM_004021.2:c.1387G>T | NP_004012.1:p.Ala463Ser | |
| NM_004022.2:c.1387G>T | NP_004013.1:p.Ala463Ser | |
| NM_004023.2:c.1387G>T | NP_004014.1:p.Ala463Ser | |
| XM_006724468.2:c.8767G>T | XP_006724531.1:p.Ala2923Ser | |
| XM_006724469.2:c.8743G>T | XP_006724532.1:p.Ala2915Ser | |
| XM_006724470.2:c.8767G>T | XP_006724533.1:p.Ala2923Ser | |
| XM_006724471.2:c.8767G>T | XP_006724534.1:p.Ala2923Ser | |
| XM_006724472.2:c.8638G>T | XP_006724535.1:p.Ala2880Ser | |
| XM_006724473.2:c.8629G>T | XP_006724536.1:p.Ala2877Ser | |
| XM_006724474.2:c.8767G>T | XP_006724537.1:p.Ala2923Ser | |
| XM_006724475.2:c.8767G>T | XP_006724538.1:p.Ala2923Ser | |
| XM_011545467.1:c.8644G>T | XP_011543769.1:p.Ala2882Ser | |
| XM_011545468.1:c.8767G>T | XP_011543770.1:p.Ala2923Ser | |
| XM_006724469.3:c.8743G>T | XP_006724532.1:p.Ala2915Ser | |
| XM_006724470.3:c.8767G>T | XP_006724533.1:p.Ala2923Ser | |
| XM_006724474.3:c.8767G>T | XP_006724537.1:p.Ala2923Ser | |
| XM_011545468.2:c.8767G>T | XP_011543770.1:p.Ala2923Ser | |
| XM_017029328.1:c.8767G>T | XP_016884817.1:p.Ala2923Ser | |
| XM_017029331.1:c.2941G>T | XP_016884820.1:p.Ala981Ser | |
| NM_000109.4:c.8743G>T | NP_000100.3:p.Ala2915Ser | |
| NM_004006.3:c.8767G>T MANE Select | NP_003997.2:p.Ala2923Ser | |
| NM_004011.4:c.4744G>T | NP_004002.3:p.Ala1582Ser | |
| NM_004012.4:c.4735G>T | NP_004003.2:p.Ala1579Ser | |
| NM_004021.3:c.1387G>T | NP_004012.2:p.Ala463Ser | |
| NM_004023.3:c.1387G>T | NP_004014.2:p.Ala463Ser | |
| NM_004013.3:c.1387G>T | NP_004004.2:p.Ala463Ser | |
| NM_004014.3:c.580G>T | NP_004005.2:p.Ala194Ser | |
| NM_004020.4:c.1387G>T | NP_004011.3:p.Ala463Ser | |
| NM_004022.3:c.1387G>T | NP_004013.2:p.Ala463Ser |