Linked Data
dbSNP Id:
rs776618633
ExAC:
2:113590302 C / T
gnomAD v2:
2-113590302-C-T
gnomAD v3:
2-112832725-C-T
gnomAD v4:
2-112832725-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112832725C>T , CM000664.2:g.112832725C>T | GRCh38 |
| NC_000002.11:g.113590302C>T , CM000664.1:g.113590302C>T | GRCh37 |
| NC_000002.10:g.113306773C>T | NCBI36 |
| NG_008851.1:g.9055G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263341.7:c.403G>A MANE Select | ENSP00000263341.2:p.Val135Met | |
| ENST00000263341.6:c.403G>A | ENSP00000263341.2:p.Val135Met | |
| ENST00000418817.5:c.403G>A | ENSP00000407219.1:p.Val135Met | |
| ENST00000487639.1:n.304G>A | ||
| ENST00000491056.5:n.1210G>A | ||
| NM_000576.2:c.403G>A | NP_000567.1:p.Val135Met | |
| XM_006712496.1:c.169G>A | XP_006712559.1:p.Val57Met | |
| XM_017003988.2:c.310G>A | XP_016859477.1:p.Val104Met | |
| NM_000576.3:c.403G>A MANE Select | NP_000567.1:p.Val135Met |