Linked Data
ClinVar Variation Id:
177914
dbSNP Id:
rs367819390
ExAC:
5:156021953 G / A
gnomAD v2:
5-156021953-G-A
gnomAD v3:
5-156594943-G-A
gnomAD v4:
5-156594943-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156594943G>A , CM000667.2:g.156594943G>A | GRCh38 |
| NC_000005.9:g.156021953G>A , CM000667.1:g.156021953G>A | GRCh37 |
| NC_000005.8:g.155954531G>A | NCBI36 |
| NG_008693.2:g.729600G>A , LRG_205:g.729600G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337851.9:c.394G>A MANE Select | ENSP00000338343.4:p.Val132Ile | |
| ENST00000337851.8:c.394G>A | ENSP00000338343.4:p.Val132Ile | |
| ENST00000435422.7:c.391G>A | ENSP00000403003.2:p.Val131Ile | |
| ENST00000517913.5:c.394G>A | ENSP00000429378.1:p.Val132Ile | |
| NM_000337.5:c.394G>A , LRG_205t1:c.394G>A | NP_000328.2:p.Val132Ile | |
| NM_001128209.1:c.391G>A | NP_001121681.1:p.Val131Ile | |
| NM_172244.2:c.394G>A | NP_758447.1:p.Val132Ile | |
| XM_005265966.3:c.394G>A | XP_005266023.1:p.Val132Ile | |
| XM_005265967.1:c.394G>A | XP_005266024.1:p.Val132Ile | |
| XM_006714911.2:c.394G>A | XP_006714974.1:p.Val132Ile | |
| XM_011534621.1:c.391G>A | XP_011532923.1:p.Val131Ile | |
| XM_005265966.5:c.394G>A | XP_005266023.1:p.Val132Ile | |
| XM_005265967.2:c.394G>A | XP_005266024.1:p.Val132Ile | |
| XM_011534621.2:c.391G>A | XP_011532923.1:p.Val131Ile | |
| XM_017009723.2:c.394G>A | XP_016865212.1:p.Val132Ile | |
| XM_017009724.1:c.394G>A | XP_016865213.1:p.Val132Ile | |
| NM_001128209.2:c.391G>A | NP_001121681.1:p.Val131Ile | |
| NM_172244.3:c.394G>A | NP_758447.1:p.Val132Ile | |
| NM_000337.6:c.394G>A MANE Select | NP_000328.2:p.Val132Ile |