Linked Data
ClinVar Variation Id:
518365
ClinVar RCV Id:
RCV000612394
dbSNP Id:
rs832582
ExAC:
5:56177743 G / A
gnomAD v2:
5-56177743-G-A
gnomAD v3:
5-56881916-G-A
gnomAD v4:
5-56881916-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56881916G>A , CM000667.2:g.56881916G>A | GRCh38 |
| NC_000005.9:g.56177743G>A , CM000667.1:g.56177743G>A | GRCh37 |
| NC_000005.8:g.56213500G>A | NCBI36 |
| NG_031884.1:g.71844G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.2716G>A MANE Select | ENSP00000382423.3:p.Val906Ile | |
| ENST00000399503.3:c.2716G>A | ENSP00000382423.3:p.Val906Ile | |
| NM_005921.1:c.2716G>A | NP_005912.1:p.Val906Ile | |
| XM_005248519.3:c.2338G>A | XP_005248576.2:p.Val780Ile | |
| XM_011543406.1:c.2461G>A | XP_011541708.1:p.Val821Ile | |
| XM_011543407.1:c.2437G>A | XP_011541709.1:p.Val813Ile | |
| XM_011543408.1:c.2716G>A | XP_011541710.1:p.Val906Ile | |
| XM_017009484.1:c.2305G>A | XP_016864973.1:p.Val769Ile | |
| XM_017009485.1:c.2227G>A | XP_016864974.1:p.Val743Ile | |
| XR_001742068.2:n.2747G>A | ||
| NM_005921.2:c.2716G>A MANE Select | NP_005912.1:p.Val906Ile |