Linked Data
ClinVar Variation Id:
2739028
ClinVar RCV Id:
RCV003506652
dbSNP Id:
rs568357208
ExAC:
9:94800575 C / T
gnomAD v2:
9-94800575-C-T
gnomAD v3:
9-92038293-C-T
gnomAD v4:
9-92038293-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92038293C>T , CM000671.2:g.92038293C>T | GRCh38 |
| NC_000009.11:g.94800575C>T , CM000671.1:g.94800575C>T | GRCh37 |
| NC_000009.10:g.93840396C>T | NCBI36 |
| NG_007950.1:g.82116G>A , LRG_272:g.82116G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482632.6:n.1619G>A | ||
| ENST00000686600.1:c.1209G>A | ENSP00000509268.1:p.Gly403= | |
| ENST00000686799.1:n.1306G>A | ||
| ENST00000687427.1:c.1209G>A | ENSP00000509426.1:p.Gly403= | |
| ENST00000687817.1:c.*1356G>A | ENSP00000508926.1:n.*1356G>A | |
| ENST00000687972.1:c.1269G>A | ENSP00000509208.1:p.Gly423= | |
| ENST00000689261.1:n.1116G>A | ||
| ENST00000689401.1:c.*1459G>A | ENSP00000510251.1:n.*1459G>A | |
| ENST00000689423.1:c.*1459G>A | ENSP00000508519.1:n.*1459G>A | |
| ENST00000690095.1:n.1597G>A | ||
| ENST00000690139.1:c.*910G>A | ENSP00000510483.1:n.*910G>A | |
| ENST00000692458.1:n.1576G>A | ||
| ENST00000693147.1:c.*1225G>A | ENSP00000510358.1:n.*1225G>A | |
| ENST00000262554.7:c.1209G>A MANE Select | ENSP00000262554.2:p.Gly403= | |
| ENST00000642671.1:c.1510G>A | ENSP00000495764.1:n.1510G>A | |
| ENST00000643599.1:c.1277G>A | ENSP00000494770.1:n.1277G>A | |
| ENST00000644140.1:c.*950G>A | ENSP00000493933.1:n.*950G>A | |
| ENST00000646481.1:c.1141G>A | ENSP00000496627.1:n.1141G>A | |
| ENST00000646534.1:c.*1012G>A | ENSP00000495388.1:n.*1012G>A | |
| ENST00000262554.6:c.1209G>A | ENSP00000262554.2:p.Gly403= | |
| ENST00000469778.1:n.166G>A | ||
| NM_001281303.1:c.1209G>A | NP_001268232.1:p.Gly403= | |
| NM_006415.3:c.1209G>A | NP_006406.1:p.Gly403= | |
| XM_011518139.1:c.744G>A | XP_011516441.1:p.Gly248= | |
| XM_011518139.3:c.744G>A | XP_011516441.1:p.Gly248= | |
| XM_017014200.2:c.843G>A | XP_016869689.1:p.Gly281= | |
| XM_017014201.2:c.843G>A | XP_016869690.1:p.Gly281= | |
| XM_024447378.1:c.744G>A | XP_024303146.1:p.Gly248= | |
| XM_024447379.1:c.744G>A | XP_024303147.1:p.Gly248= | |
| XR_002956744.1:n.1359G>A | ||
| NM_006415.4:c.1209G>A MANE Select | NP_006406.1:p.Gly403= | |
| NM_001281303.2:c.1209G>A | NP_001268232.1:p.Gly403= | |
| NM_001368272.1:c.843G>A | NP_001355201.1:p.Gly281= | |
| NM_001368273.1:c.744G>A | NP_001355202.1:p.Gly248= |