Linked Data
ClinVar Variation Id:
1341718
ClinVar RCV Id:
RCV001837198
dbSNP Id:
rs777122990
ExAC:
9:139905447 A / G
gnomAD v2:
9-139905447-A-G
gnomAD v4:
9-137010995-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137010995A>G , CM000671.2:g.137010995A>G | GRCh38 |
| NC_000009.11:g.139905447A>G , CM000671.1:g.139905447A>G | GRCh37 |
| NC_000009.10:g.139025268A>G | NCBI36 |
| NG_011789.1:g.22928T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614293.5:c.6124T>C | ENSP00000481105.2:p.Tyr2042His | |
| ENST00000341511.11:c.6034T>C MANE Select | ENSP00000344155.6:p.Tyr2012His | |
| ENST00000265662.9:c.6034T>C | ENSP00000265662.5:p.Tyr2012His | |
| ENST00000341511.10:c.6034T>C | ENSP00000344155.6:p.Tyr2012His | |
| ENST00000371605.7:c.6031T>C | ENSP00000360666.3:p.Tyr2011His | |
| ENST00000459850.5:n.6244T>C | ||
| ENST00000463603.5:n.22T>C | ||
| ENST00000479446.5:c.4083T>C | ||
| ENST00000487109.5:c.*3189T>C | ENSP00000418662.1:n.*3189T>C | |
| ENST00000614293.4:c.6124T>C | ENSP00000481105.1:p.Tyr2042His | |
| NM_001606.4:c.6034T>C | NP_001597.2:p.Tyr2012His | |
| NM_212533.2:c.6124T>C | NP_997698.1:p.Tyr2042His | |
| XM_006716996.2:c.6031T>C | XP_006717059.1:p.Tyr2011His | |
| XM_011518346.1:c.6121T>C | XP_011516648.1:p.Tyr2041His | |
| XM_006716996.4:c.6031T>C | XP_006717059.1:p.Tyr2011His | |
| XR_001746224.1:n.6238T>C | ||
| NM_001606.5:c.6034T>C MANE Select | NP_001597.2:p.Tyr2012His | |
| NM_212533.3:c.6124T>C | NP_997698.1:p.Tyr2042His |