Linked Data
dbSNP Id:
rs558838925
ExAC:
17:56350919 C / T
gnomAD v2:
17-56350919-C-T
gnomAD v3:
17-58273558-C-T
gnomAD v4:
17-58273558-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273558C>T , CM000679.2:g.58273558C>T | GRCh38 |
| NC_000017.10:g.56350919C>T , CM000679.1:g.56350919C>T | GRCh37 |
| NC_000017.9:g.53705918C>T | NCBI36 |
| NG_009629.1:g.12378G>A , LRG_84:g.12378G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.810G>A | ||
| ENST00000699291.1:c.602G>A | ENSP00000514272.1:n.602G>A | |
| ENST00000699292.1:n.517G>A | ||
| ENST00000225275.4:c.1477G>A MANE Select | ENSP00000225275.3:p.Val493Ile | |
| ENST00000225275.3:c.1477G>A | ENSP00000225275.3:p.Val493Ile | |
| NM_000250.1:c.1477G>A , LRG_84t1:c.1477G>A | NP_000241.1:p.Val493Ile | |
| XM_011524821.1:c.1663G>A | XP_011523123.1:p.Val555Ile | |
| XM_011524822.1:c.1192G>A | XP_011523124.1:p.Val398Ile | |
| XM_011524823.1:c.*26G>A | XP_011523125.1:n.*26G>A | |
| NM_000250.2:c.1477G>A MANE Select | NP_000241.1:p.Val493Ile |