Linked Data
ClinVar Variation Id:
221277
ClinVar RCV Id:
RCV000207283
dbSNP Id:
rs869025278
gnomAD v4:
1-3816372-T-C
PubMed:
PMID:26477546
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.3816372T>C , CM000663.2:g.3816372T>C | GRCh38 |
| NC_000001.10:g.3732936T>C , CM000663.1:g.3732936T>C | GRCh37 |
| NC_000001.9:g.3722796T>C | NCBI36 |
| NG_046726.1:g.45862A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378230.8:c.2572-2A>G MANE Select | ENSP00000367476.3:n.2572-2A>G | |
| ENST00000428079.6:c.2572-2A>G | ENSP00000394989.2:n.2572-2A>G | |
| ENST00000438539.6:n.1619-2A>G | ||
| ENST00000674544.1:c.2398-2A>G | ENSP00000502641.1:n.2398-2A>G | |
| ENST00000674558.1:c.2572-2A>G | ENSP00000501829.1:n.2572-2A>G | |
| ENST00000674623.1:c.2572-2A>G | ENSP00000501733.1:n.2572-2A>G | |
| ENST00000674879.1:n.3508-2A>G | ||
| ENST00000674985.1:c.*1430-2A>G | ENSP00000502482.1:n.*1430-2A>G | |
| ENST00000675108.1:c.*2640-2A>G | ENSP00000502131.1:n.*2640-2A>G | |
| ENST00000675200.1:c.*451-2A>G | ENSP00000502512.1:n.*451-2A>G | |
| ENST00000675334.1:n.2376-2A>G | ||
| ENST00000675375.1:c.2398-2A>G | ENSP00000502180.1:n.2398-2A>G | |
| ENST00000675666.1:c.2504-2A>G | ENSP00000502548.1:n.2504-2A>G | |
| ENST00000675677.1:c.2374-2A>G | ENSP00000501944.1:n.2374-2A>G | |
| ENST00000675750.1:c.*1901-2A>G | ENSP00000502342.1:n.*1901-2A>G | |
| ENST00000675966.1:n.4244-2A>G | ||
| ENST00000676009.1:c.*321-2A>G | ENSP00000502246.1:n.*321-2A>G | |
| ENST00000676052.1:c.2590-2A>G | ENSP00000502793.1:n.2590-2A>G | |
| ENST00000378230.7:c.2572-2A>G | ENSP00000367476.3:n.2572-2A>G | |
| ENST00000438539.5:c.462-2A>G | ||
| ENST00000484420.1:n.87A>G | ||
| NM_014704.3:c.2572-2A>G | NP_055519.1:n.2572-2A>G | |
| XM_005244815.3:c.2680-2A>G | XP_005244872.1:n.2680-2A>G | |
| XM_011542473.1:c.2698-2A>G | XP_011540775.1:n.2698-2A>G | |
| XM_011542474.1:c.2590-2A>G | XP_011540776.1:n.2590-2A>G | |
| XM_011542475.1:c.2524-2A>G | XP_011540777.1:n.2524-2A>G | |
| XM_011542476.1:c.2500-2A>G | XP_011540778.1:n.2500-2A>G | |
| XM_011542477.1:c.2326-2A>G | XP_011540779.1:n.2326-2A>G | |
| XM_005244815.4:c.2680-2A>G | XP_005244872.1:n.2680-2A>G | |
| XM_011542474.3:c.2590-2A>G | XP_011540776.1:n.2590-2A>G | |
| XM_017002918.2:c.2398-2A>G | XP_016858407.1:n.2398-2A>G | |
| XM_017002919.2:c.2374-2A>G | XP_016858408.1:n.2374-2A>G | |
| XM_024451101.1:c.2698-2A>G | XP_024306869.1:n.2698-2A>G | |
| XM_024451102.1:c.2524-2A>G | XP_024306870.1:n.2524-2A>G | |
| XM_024451103.1:c.2506-2A>G | XP_024306871.1:n.2506-2A>G | |
| XM_024451104.1:c.2500-2A>G | XP_024306872.1:n.2500-2A>G | |
| XM_024451106.1:c.2326-2A>G | XP_024306874.1:n.2326-2A>G | |
| NM_014704.4:c.2572-2A>G MANE Select | NP_055519.1:n.2572-2A>G |