Linked Data
ClinVar Variation Id:
14740
ClinVar RCV Id:
RCV002051629
dbSNP Id:
rs121912466
PubMed:
PMID:10792571
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75742591G>A , CM000679.2:g.75742591G>A | GRCh38 |
| NC_000017.10:g.73738672G>A , CM000679.1:g.73738672G>A | GRCh37 |
| NC_000017.9:g.71250267G>A | NCBI36 |
| NG_007372.1:g.26157G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000449880.7:c.2792G>A | ENSP00000400217.2:p.Gly931Asp | |
| ENST00000200181.8:c.2792G>A MANE Select | ENSP00000200181.3:p.Gly931Asp | |
| ENST00000200181.7:c.2792G>A | ENSP00000200181.3:p.Gly931Asp | |
| ENST00000449880.6:c.2792G>A | ENSP00000400217.2:p.Gly931Asp | |
| ENST00000450894.7:c.2792G>A | ENSP00000405536.3:p.Gly931Asp | |
| ENST00000579662.5:c.2792G>A | ENSP00000463651.1:p.Gly931Asp | |
| ENST00000582629.1:c.265+13214G>A | ENSP00000463788.1:n.265+13214G>A | |
| ENST00000584025.1:n.168G>A | ||
| ENST00000584558.5:n.2829G>A | ||
| NM_000213.3:c.2792G>A | NP_000204.3:p.Gly931Asp | |
| NM_001005619.1:c.2792G>A | NP_001005619.1:p.Gly931Asp | |
| NM_001005731.1:c.2792G>A | NP_001005731.1:p.Gly931Asp | |
| XM_005257309.2:c.2792G>A | XP_005257366.1:p.Gly931Asp | |
| XM_005257311.3:c.2792G>A | XP_005257368.1:p.Gly931Asp | |
| XM_005257312.2:c.2792G>A | XP_005257369.1:p.Gly931Asp | |
| XM_006721866.2:c.2897G>A | XP_006721929.1:p.Gly966Asp | |
| XM_006721867.2:c.2897G>A | XP_006721930.1:p.Gly966Asp | |
| XM_006721868.2:c.2897G>A | XP_006721931.1:p.Gly966Asp | |
| XM_006721870.2:c.2897G>A | XP_006721933.1:p.Gly966Asp | |
| XM_011524751.1:c.2897G>A | XP_011523053.1:p.Gly966Asp | |
| XM_011524752.1:c.737G>A | XP_011523054.1:p.Gly246Asp | |
| NM_000213.4:c.2792G>A | NP_000204.3:p.Gly931Asp | |
| NM_001005731.2:c.2792G>A | NP_001005731.1:p.Gly931Asp | |
| NM_001321123.1:c.2792G>A | NP_001308052.1:p.Gly931Asp | |
| XM_005257311.4:c.2792G>A | XP_005257368.1:p.Gly931Asp | |
| XM_006721866.3:c.2897G>A | XP_006721929.1:p.Gly966Asp | |
| XM_006721867.3:c.2897G>A | XP_006721930.1:p.Gly966Asp | |
| XM_006721868.3:c.2897G>A | XP_006721931.1:p.Gly966Asp | |
| XM_006721870.3:c.2897G>A | XP_006721933.1:p.Gly966Asp | |
| XM_011524751.2:c.2897G>A | XP_011523053.1:p.Gly966Asp | |
| XM_011524752.2:c.737G>A | XP_011523054.1:p.Gly246Asp | |
| NM_000213.5:c.2792G>A MANE Select | NP_000204.3:p.Gly931Asp | |
| NM_001005731.3:c.2792G>A | NP_001005731.1:p.Gly931Asp | |
| NM_001321123.2:c.2792G>A | NP_001308052.1:p.Gly931Asp |