Linked Data
dbSNP Id:
rs1283458095
gnomAD v2:
1-196964852-G-A
gnomAD v4:
1-196995722-G-A
COSMIC:
COSM901603
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196995722G>A , CM000663.2:g.196995722G>A | GRCh38 |
| NC_000001.10:g.196964852G>A , CM000663.1:g.196964852G>A | GRCh37 |
| NC_000001.9:g.195231475G>A | NCBI36 |
| NG_016365.1:g.23186G>A , LRG_227:g.23186G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.358G>A | ENSP00000514393.1:p.Val120Ile | |
| ENST00000699467.1:n.682G>A | ||
| ENST00000699468.1:c.-24-392G>A | ENSP00000514394.1:n.-24-392G>A | |
| ENST00000256785.5:c.613G>A MANE Select | ENSP00000256785.4:p.Val205Ile | |
| ENST00000256785.4:c.613G>A | ENSP00000256785.4:p.Val205Ile | |
| NM_030787.3:c.613G>A , LRG_227t1:c.613G>A | NP_110414.1:p.Val205Ile | |
| XM_011510020.1:c.622G>A | XP_011508322.1:p.Val208Ile | |
| XM_011510020.2:c.622G>A | XP_011508322.1:p.Val208Ile | |
| NM_030787.4:c.613G>A MANE Select | NP_110414.1:p.Val205Ile |