Linked Data
dbSNP Id:
rs2257269
ExAC:
6:31323353 G / A
gnomAD v2:
6-31323353-G-A
gnomAD v3:
6-31355576-G-A
gnomAD v4:
6-31355576-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31355576G>A , CM000668.2:g.31355576G>A | GRCh38 |
| NC_000006.11:g.31323353G>A , CM000668.1:g.31323353G>A | GRCh37 |
| NC_000006.10:g.31431332G>A | NCBI36 |
| NG_023187.1:g.6637C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474381.2:n.2683C>T | ||
| ENST00000481849.6:n.2109C>T | ||
| ENST00000497377.6:n.2109C>T | ||
| ENST00000640094.2:c.636C>T | ENSP00000491275.2:p.His212= | |
| ENST00000696558.1:c.705C>T | ENSP00000512716.1:n.705C>T | |
| ENST00000696559.1:c.636C>T | ENSP00000512717.1:p.His212= | |
| ENST00000696560.1:c.636C>T | ENSP00000512718.1:p.His212= | |
| ENST00000696561.1:c.636C>T | ENSP00000512719.1:p.His212= | |
| ENST00000696562.1:c.636C>T | ENSP00000512720.1:p.His212= | |
| ENST00000412585.7:c.636C>T MANE Select | ENSP00000399168.2:p.His212= | |
| ENST00000412585.6:c.636C>T | ENSP00000399168.2:p.His212= | |
| ENST00000434333.1:c.669C>T | ENSP00000405931.1:p.His223= | |
| ENST00000463574.1:n.227C>T | ||
| ENST00000474381.1:n.1085C>T | ||
| ENST00000498007.1:n.902C>T | ||
| NM_005514.6:c.636C>T | NP_005505.2:p.His212= | |
| XM_011514556.1:c.669C>T | XP_011512858.1:p.His223= | |
| XM_011514557.1:c.636C>T | XP_011512859.1:p.His212= | |
| XR_926175.1:n.1075C>T | ||
| NM_005514.7:c.636C>T | NP_005505.2:p.His212= | |
| NM_005514.8:c.636C>T MANE Select | NP_005505.2:p.His212= |