Linked Data
ClinVar Variation Id:
433204
ClinVar RCV Id:
RCV000499249
dbSNP Id:
rs72653753
gnomAD v2:
16-16313499-C-T
gnomAD v3:
16-16219642-C-T
gnomAD v4:
16-16219642-C-T
PubMed:
PMID:16086317
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16219642C>T , CM000678.2:g.16219642C>T | GRCh38 |
| NC_000016.9:g.16313499C>T , CM000678.1:g.16313499C>T | GRCh37 |
| NC_000016.8:g.16221000C>T | NCBI36 |
| NG_007558.2:g.8830G>A | |
| NG_007558.3:g.8976G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574094.6:c.386G>A | ENSP00000507301.1:p.Gly129Glu | |
| ENST00000622290.5:c.386G>A | ENSP00000483331.2:p.Gly129Glu | |
| ENST00000205557.12:c.386G>A MANE Select | ENSP00000205557.7:p.Gly129Glu | |
| ENST00000205557.11:c.386G>A | ENSP00000205557.7:p.Gly129Glu | |
| ENST00000456970.6:c.386G>A | ENSP00000405002.2:p.Gly129Glu | |
| ENST00000574094.5:n.482G>A | ||
| ENST00000577103.1:c.*253G>A | ENSP00000459243.1:n.*253G>A | |
| ENST00000622290.4:c.386G>A | ENSP00000483331.1:p.Gly129Glu | |
| NM_001171.5:c.386G>A | NP_001162.4:p.Gly129Glu | |
| XM_011522479.1:c.386G>A | XP_011520781.1:p.Gly129Glu | |
| XM_011522480.1:c.44G>A | XP_011520782.1:p.Gly15Glu | |
| XM_011522481.1:c.44G>A | XP_011520783.1:p.Gly15Glu | |
| XM_011522482.1:c.386G>A | XP_011520784.1:p.Gly129Glu | |
| XR_932836.1:n.621G>A | ||
| XR_932837.1:n.622G>A | ||
| XR_932838.1:n.622G>A | ||
| NM_001351800.1:c.44G>A | NP_001338729.1:p.Gly15Glu | |
| NR_147784.1:n.423G>A | ||
| XM_011522479.2:c.386G>A | XP_011520781.1:p.Gly129Glu | |
| XM_011522481.3:c.44G>A | XP_011520783.1:p.Gly15Glu | |
| XM_011522482.3:c.386G>A | XP_011520784.1:p.Gly129Glu | |
| XM_017023212.1:c.386G>A | XP_016878701.1:p.Gly129Glu | |
| XM_017023214.1:c.386G>A | XP_016878703.1:p.Gly129Glu | |
| XM_024450261.1:c.422G>A | XP_024306029.1:p.Gly141Glu | |
| XR_932836.2:n.567G>A | ||
| XR_932837.3:n.567G>A | ||
| XR_932838.3:n.567G>A | ||
| NM_001171.6:c.386G>A MANE Select | NP_001162.5:p.Gly129Glu |