Linked Data
dbSNP Id:
rs766159387
ExAC:
10:96702050 G / A
gnomAD v2:
10-96702050-G-A
gnomAD v4:
10-94942293-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942293G>A , CM000672.2:g.94942293G>A | GRCh38 |
| NC_000010.10:g.96702050G>A , CM000672.1:g.96702050G>A | GRCh37 |
| NC_000010.9:g.96692040G>A | NCBI36 |
| NG_008385.1:g.8636G>A | |
| NG_008385.2:g.9136G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.433G>A MANE Select | ENSP00000260682.6:p.Val145Ile | |
| ENST00000643112.1:c.433G>A | ENSP00000496202.1:p.Val145Ile | |
| ENST00000645207.1:n.586G>A | ||
| ENST00000260682.6:c.433G>A | ENSP00000260682.6:p.Val145Ile | |
| ENST00000461906.1:n.458G>A | ||
| ENST00000473496.1:n.204G>A | ||
| NM_000771.3:c.433G>A | NP_000762.2:p.Val145Ile | |
| NM_000771.4:c.433G>A MANE Select | NP_000762.2:p.Val145Ile |