Linked Data
ClinVar Variation Id:
417777
dbSNP Id:
rs1060505038
gnomAD v2:
17-1417169-A-G
gnomAD v4:
17-1513875-A-G
PubMed:
PMID:28190456
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1513875A>G , CM000679.2:g.1513875A>G | GRCh38 |
| NC_000017.10:g.1417169A>G , CM000679.1:g.1417169A>G | GRCh37 |
| NC_000017.9:g.1363919A>G | NCBI36 |
| NG_029891.1:g.8014T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000421807.7:c.149T>C MANE Select | ENSP00000413937.2:p.Ile50Thr | |
| ENST00000320345.10:c.-80T>C | ENSP00000318476.6:n.-80T>C | |
| ENST00000350761.9:c.44+2581T>C | ENSP00000254712.5:n.44+2581T>C | |
| ENST00000406424.8:c.-80T>C | ENSP00000385177.4:n.-80T>C | |
| ENST00000421807.6:c.149T>C | ENSP00000413937.2:p.Ile50Thr | |
| ENST00000445774.2:c.149T>C | ENSP00000389334.2:p.Ile50Thr | |
| ENST00000449479.5:c.-19T>C | ENSP00000413259.1:n.-19T>C | |
| ENST00000477910.5:c.-80T>C | ENSP00000467376.1:n.-80T>C | |
| ENST00000498390.5:c.-19T>C | ENSP00000466929.1:n.-19T>C | |
| ENST00000571274.5:c.-80T>C | ENSP00000458413.1:n.-80T>C | |
| ENST00000573790.5:c.149T>C | ENSP00000461846.1:p.Ile50Thr | |
| ENST00000574561.1:c.44+2581T>C | ENSP00000461105.1:n.44+2581T>C | |
| ENST00000574955.1:c.*152T>C | ENSP00000459029.1:n.*152T>C | |
| ENST00000575172.5:c.149T>C | ENSP00000459758.1:p.Ile50Thr | |
| ENST00000576646.7:c.105T>C | ||
| NM_001135642.1:c.-80T>C | NP_001129114.1:n.-80T>C | |
| NM_016532.3:c.149T>C | NP_057616.2:p.Ile50Thr | |
| NM_130766.2:c.-80T>C | NP_570122.1:n.-80T>C | |
| XM_005256683.2:c.-73T>C | XP_005256740.1:n.-73T>C | |
| XM_005256685.1:c.-19T>C | XP_005256742.1:n.-19T>C | |
| XM_005256686.1:c.-19T>C | XP_005256743.1:n.-19T>C | |
| XM_011523934.1:c.-80T>C | XP_011522236.1:n.-80T>C | |
| XM_011523935.1:c.-80T>C | XP_011522237.1:n.-80T>C | |
| XM_011523936.1:c.-260T>C | XP_011522238.1:n.-260T>C | |
| XM_005256686.2:c.-19T>C | XP_005256743.1:n.-19T>C | |
| XM_011523936.2:c.-260T>C | XP_011522238.1:n.-260T>C | |
| XM_017024756.1:c.-73T>C | XP_016880245.1:n.-73T>C | |
| XM_017024757.2:c.-19T>C | XP_016880246.1:n.-19T>C | |
| XM_017024758.2:c.-267T>C | XP_016880247.1:n.-267T>C | |
| XM_017024759.1:c.-158T>C | XP_016880248.1:n.-158T>C | |
| XM_024450802.1:c.-73T>C | XP_024306570.1:n.-73T>C | |
| NM_016532.4:c.149T>C MANE Select | NP_057616.2:p.Ile50Thr | |
| NM_001135642.2:c.-80T>C | NP_001129114.1:n.-80T>C | |
| NM_130766.3:c.-80T>C | NP_570122.1:n.-80T>C |