Linked Data
ClinVar Variation Id:
2903286
ClinVar RCV Id:
RCV003726652
dbSNP Id:
rs150801808
ExAC:
12:125432395 T / C
gnomAD v2:
12-125432395-T-C
gnomAD v3:
12-124947849-T-C
gnomAD v4:
12-124947849-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124947849T>C , CM000674.2:g.124947849T>C | GRCh38 |
| NC_000012.11:g.125432395T>C , CM000674.1:g.125432395T>C | GRCh37 |
| NC_000012.10:g.123998348T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308736.7:c.3427A>G MANE Select | ENSP00000311135.2:p.Met1143Val | |
| ENST00000544745.2:c.3094A>G | ||
| ENST00000308736.6:c.3427A>G | ENSP00000311135.2:p.Met1143Val | |
| ENST00000507267.2:n.571A>G | ||
| ENST00000539298.1:n.3527A>G | ||
| ENST00000542400.5:n.2041A>G | ||
| ENST00000544745.1:c.*95A>G | ENSP00000439009.1:n.*95A>G | |
| NM_032656.3:c.3427A>G | NP_116045.2:p.Met1143Val | |
| XR_001748819.1:n.3567A>G | ||
| XR_001748820.1:n.3520A>G | ||
| NM_032656.4:c.3427A>G MANE Select | NP_116045.2:p.Met1143Val |