Linked Data
ClinVar Variation Id:
904113
dbSNP Id:
rs756763314
ExAC:
5:149453003 C / T
gnomAD v2:
5-149453003-C-T
gnomAD v3:
5-150073440-C-T
gnomAD v4:
5-150073440-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150073440C>T , CM000667.2:g.150073440C>T | GRCh38 |
| NC_000005.9:g.149453003C>T , CM000667.1:g.149453003C>T | GRCh37 |
| NC_000005.8:g.149433196C>T | NCBI36 |
| NG_012303.1:g.44933G>A | |
| NG_012303.2:g.44933G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675795.1:c.943G>A MANE Select | ENSP00000501699.1:p.Val315Met | |
| ENST00000286301.7:c.943G>A | ENSP00000286301.3:p.Val315Met | |
| ENST00000504875.5:c.943G>A | ENSP00000422212.1:p.Val315Met | |
| ENST00000543093.1:c.890-2869G>A | ENSP00000445282.1:n.890-2869G>A | |
| NM_001288705.1:c.943G>A | NP_001275634.1:p.Val315Met | |
| NM_005211.3:c.943G>A | NP_005202.2:p.Val315Met | |
| NR_109969.1:n.1156G>A | ||
| NM_001288705.2:c.943G>A | NP_001275634.1:p.Val315Met | |
| NM_001349736.1:c.943G>A | NP_001336665.1:p.Val315Met | |
| NM_001288705.3:c.943G>A MANE Select | NP_001275634.1:p.Val315Met | |
| NM_001375320.1:c.943G>A | NP_001362249.1:p.Val315Met | |
| NM_001375321.1:c.499G>A | NP_001362250.1:p.Val167Met | |
| NR_164679.1:n.999G>A | ||
| NM_001349736.2:c.943G>A | NP_001336665.1:p.Val315Met | |
| NM_005211.4:c.943G>A | NP_005202.2:p.Val315Met | |
| NR_109969.2:n.1070G>A |