UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs876017
gnomAD v2:
17-79810642-A-G
gnomAD v3:
17-81852766-A-G
gnomAD v4:
17-81852766-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81852766A>G , CM000679.2:g.81852766A>G | GRCh38 |
| NC_000017.10:g.79810642A>G , CM000679.1:g.79810642A>G | GRCh37 |
| NC_000017.9:g.77403931A>G | NCBI36 |
| NG_042033.1:g.12903T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331483.9:c.624+2376T>C MANE Select | ENSP00000327801.4:n.624+2376T>C | |
| ENST00000415593.6:c.355-5419T>C | ENSP00000388117.2:n.355-5419T>C | |
| ENST00000439918.7:c.492+2376T>C | ENSP00000388374.2:n.492+2376T>C | |
| ENST00000466567.3:n.5408+2376T>C | ||
| ENST00000471535.2:n.578+2376T>C | ||
| ENST00000472244.6:n.654+2376T>C | ||
| ENST00000477607.7:n.816+2376T>C | ||
| ENST00000570907.6:c.624+2376T>C | ENSP00000461362.2:n.624+2376T>C | |
| ENST00000571617.2:c.624+2376T>C | ENSP00000458300.2:n.624+2376T>C | |
| ENST00000573778.7:c.*439+2376T>C | ENSP00000460088.3:n.*439+2376T>C | |
| ENST00000574007.6:n.1286+2376T>C | ||
| ENST00000574914.2:c.516+2376T>C | ENSP00000460612.2:n.516+2376T>C | |
| ENST00000575069.6:c.*439+2376T>C | ENSP00000459211.1:n.*439+2376T>C | |
| ENST00000576052.2:c.353-5419T>C | ENSP00000461791.2:n.353-5419T>C | |
| ENST00000576380.6:c.*305+2376T>C | ENSP00000460285.2:n.*305+2376T>C | |
| ENST00000576390.6:c.624+2376T>C | ENSP00000461718.2:n.624+2376T>C | |
| ENST00000576541.2:c.*483+2376T>C | ENSP00000460741.2:n.*483+2376T>C | |
| ENST00000679366.1:c.624+2376T>C | ENSP00000506375.1:n.624+2376T>C | |
| ENST00000679396.1:n.751+2376T>C | ||
| ENST00000679439.1:c.624+2376T>C | ENSP00000505377.1:n.624+2376T>C | |
| ENST00000679455.1:c.*439+2376T>C | ENSP00000505971.1:n.*439+2376T>C | |
| ENST00000679470.1:n.711+2376T>C | ||
| ENST00000679628.1:n.1613+2376T>C | ||
| ENST00000679688.1:c.*245+2376T>C | ENSP00000505272.1:n.*245+2376T>C | |
| ENST00000679889.1:c.726+2376T>C | ENSP00000506718.1:n.726+2376T>C | |
| ENST00000680076.1:n.722+2376T>C | ||
| ENST00000680083.1:c.*358+2376T>C | ENSP00000505575.1:n.*358+2376T>C | |
| ENST00000680105.1:c.*82+2376T>C | ENSP00000506284.1:n.*82+2376T>C | |
| ENST00000680191.1:c.699+2376T>C | ENSP00000506544.1:n.699+2376T>C | |
| ENST00000680208.1:n.728+2376T>C | ||
| ENST00000680226.1:c.624+2376T>C | ENSP00000505635.1:n.624+2376T>C | |
| ENST00000680259.1:c.*1125+2376T>C | ENSP00000504869.1:n.*1125+2376T>C | |
| ENST00000680368.1:n.2143+2376T>C | ||
| ENST00000680400.1:c.-346+2376T>C | ENSP00000505382.1:n.-346+2376T>C | |
| ENST00000680416.1:c.*923+2376T>C | ENSP00000506306.1:n.*923+2376T>C | |
| ENST00000680547.1:n.1325+2376T>C | ||
| ENST00000680559.1:n.1612+2376T>C | ||
| ENST00000680593.1:c.624+2376T>C | ENSP00000505754.1:n.624+2376T>C | |
| ENST00000680719.1:n.810+2376T>C | ||
| ENST00000680732.1:c.*82+2376T>C | ENSP00000505727.1:n.*82+2376T>C | |
| ENST00000680799.1:n.673+2376T>C | ||
| ENST00000680838.1:n.1315+2376T>C | ||
| ENST00000680846.1:c.*245+2376T>C | ENSP00000506612.1:n.*245+2376T>C | |
| ENST00000680847.1:c.*112+481T>C | ENSP00000506451.1:n.*112+481T>C | |
| ENST00000680884.1:c.726+2376T>C | ENSP00000505953.1:n.726+2376T>C | |
| ENST00000680909.1:c.*951+2376T>C | ENSP00000505545.1:n.*951+2376T>C | |
| ENST00000680914.1:c.624+2376T>C | ENSP00000505149.1:n.624+2376T>C | |
| ENST00000681020.1:c.624+2376T>C | ENSP00000506014.1:n.624+2376T>C | |
| ENST00000681030.1:c.*877+2376T>C | ENSP00000505707.1:n.*877+2376T>C | |
| ENST00000681031.1:c.*413+2376T>C | ENSP00000505466.1:n.*413+2376T>C | |
| ENST00000681068.1:n.1136+2376T>C | ||
| ENST00000681161.1:c.417+2376T>C | ENSP00000505659.1:n.417+2376T>C | |
| ENST00000681420.1:c.624+2376T>C | ENSP00000505993.1:n.624+2376T>C | |
| ENST00000681485.1:n.861+2376T>C | ||
| ENST00000681515.1:c.*136+2376T>C | ENSP00000505872.1:n.*136+2376T>C | |
| ENST00000681566.1:c.624+2376T>C | ENSP00000506218.1:n.624+2376T>C | |
| ENST00000681571.1:n.1381+2376T>C | ||
| ENST00000681614.1:n.1018+2376T>C | ||
| ENST00000681693.1:c.543+2376T>C | ENSP00000505096.1:n.543+2376T>C | |
| ENST00000681760.1:c.*439+2376T>C | ENSP00000506555.1:n.*439+2376T>C | |
| ENST00000681835.1:n.1970+2376T>C | ||
| ENST00000681872.1:n.911+2376T>C | ||
| ENST00000681933.1:c.*441+2376T>C | ENSP00000504864.1:n.*441+2376T>C | |
| ENST00000681954.1:n.1356+2376T>C | ||
| ENST00000331483.8:c.624+2376T>C | ENSP00000327801.4:n.624+2376T>C | |
| ENST00000439918.6:c.492+2376T>C | ENSP00000388374.2:n.492+2376T>C | |
| ENST00000472244.5:n.507+2376T>C | ||
| ENST00000477607.6:n.696+2376T>C | ||
| ENST00000478034.5:n.310+2376T>C | ||
| ENST00000570907.5:c.34-5419T>C | ENSP00000461362.1:n.34-5419T>C | |
| ENST00000571617.1:c.243+6524T>C | ENSP00000458300.1:n.243+6524T>C | |
| ENST00000573778.6:c.417+2376T>C | ENSP00000460088.2:n.417+2376T>C | |
| ENST00000574007.5:n.822+2376T>C | ||
| ENST00000575069.5:c.*439+2376T>C | ENSP00000459211.1:n.*439+2376T>C | |
| ENST00000576052.1:c.355-5419T>C | ENSP00000461791.1:n.355-5419T>C | |
| ENST00000576380.5:c.171+2376T>C | ENSP00000460285.1:n.171+2376T>C | |
| ENST00000576390.5:c.233+6534T>C | ENSP00000461718.1:n.233+6534T>C | |
| ENST00000576541.1:c.543+2376T>C | ENSP00000460741.1:n.543+2376T>C | |
| NM_000918.3:c.624+2376T>C | NP_000909.2:n.624+2376T>C | |
| XM_024450777.1:c.624+2376T>C | XP_024306545.1:n.624+2376T>C | |
| XR_002958014.1:n.688+2376T>C | ||
| NM_000918.4:c.624+2376T>C MANE Select | NP_000909.2:n.624+2376T>C |