Linked Data
ClinVar Variation Id:
7369
dbSNP Id:
rs121909124
ExAC:
6:42153424 C / T
gnomAD v2:
6-42153424-C-T
gnomAD v3:
6-42185686-C-T
gnomAD v4:
6-42185686-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42185686C>T , CM000668.2:g.42185686C>T | GRCh38 |
| NC_000006.11:g.42153424C>T , CM000668.1:g.42153424C>T | GRCh37 |
| NC_000006.10:g.42261402C>T | NCBI36 |
| NG_016216.1:g.14271G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000230361.4:c.469G>A MANE Select | ENSP00000230361.3:p.Gly157Arg | |
| ENST00000230361.3:c.469G>A | ENSP00000230361.3:p.Gly157Arg | |
| NM_002098.5:c.469G>A | NP_002089.4:p.Gly157Arg | |
| XM_011514540.1:c.265G>A | XP_011512842.1:p.Gly89Arg | |
| NM_002098.6:c.469G>A MANE Select | NP_002089.4:p.Gly157Arg |