Linked Data
ClinVar Variation Id:
3059738
ClinVar RCV Id:
RCV003974709
dbSNP Id:
rs2596492
ExAC:
6:31324711 A / G
gnomAD v2:
6-31324711-A-G
gnomAD v3:
6-31356934-A-G
gnomAD v4:
6-31356934-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356934A>G , CM000668.2:g.31356934A>G | GRCh38 |
| NC_000006.11:g.31324711A>G , CM000668.1:g.31324711A>G | GRCh37 |
| NC_000006.10:g.31432690A>G | NCBI36 |
| NG_023187.1:g.5279T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1570T>C | ||
| ENST00000481849.6:n.1570T>C | ||
| ENST00000497377.6:n.1570T>C | ||
| ENST00000640094.2:c.97T>C | ENSP00000491275.2:p.Tyr33His | |
| ENST00000696558.1:c.97T>C | ENSP00000512716.1:p.Tyr33His | |
| ENST00000696559.1:c.97T>C | ENSP00000512717.1:p.Tyr33His | |
| ENST00000696560.1:c.97T>C | ENSP00000512718.1:p.Tyr33His | |
| ENST00000696561.1:c.97T>C | ENSP00000512719.1:p.Tyr33His | |
| ENST00000696562.1:c.97T>C | ENSP00000512720.1:p.Tyr33His | |
| ENST00000412585.7:c.97T>C MANE Select | ENSP00000399168.2:p.Tyr33His | |
| ENST00000412585.6:c.97T>C | ENSP00000399168.2:p.Tyr33His | |
| ENST00000434333.1:c.130T>C | ENSP00000405931.1:p.Tyr44His | |
| ENST00000498007.1:n.118T>C | ||
| ENST00000603274.1:n.288A>G | ||
| NM_005514.6:c.97T>C | NP_005505.2:p.Tyr33His | |
| XM_011514556.1:c.130T>C | XP_011512858.1:p.Tyr44His | |
| XM_011514557.1:c.97T>C | XP_011512859.1:p.Tyr33His | |
| XR_926175.1:n.107T>C | ||
| NM_005514.7:c.97T>C | NP_005505.2:p.Tyr33His | |
| NM_005514.8:c.97T>C MANE Select | NP_005505.2:p.Tyr33His |