Linked Data
dbSNP Id:
rs2919024
gnomAD v2:
1-242522042-A-G
gnomAD v3:
1-242358740-A-G
gnomAD v4:
1-242358740-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.242358740A>G , CM000663.2:g.242358740A>G | GRCh38 |
| NC_000001.10:g.242522042A>G , CM000663.1:g.242522042A>G | GRCh37 |
| NC_000001.9:g.240588665A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000536534.7:c.190-10498T>C MANE Select | ENSP00000440896.1:n.190-10498T>C | |
| ENST00000314833.10:c.4-10498T>C | ENSP00000314748.6:n.4-10498T>C | |
| ENST00000366545.5:c.190-10498T>C | ENSP00000355503.4:n.190-10498T>C | |
| ENST00000427495.5:c.4-10498T>C | ENSP00000401285.1:n.4-10498T>C | |
| ENST00000442594.6:c.190-10498T>C | ENSP00000414188.3:n.190-10498T>C | |
| ENST00000459864.1:c.4-10498T>C | ENSP00000438191.1:n.4-10498T>C | |
| ENST00000467561.5:c.190-10498T>C | ENSP00000440132.1:n.190-10498T>C | |
| ENST00000536534.6:c.190-10498T>C | ENSP00000440896.1:n.190-10498T>C | |
| NM_001195811.1:c.4-10498T>C | NP_001182740.1:n.4-10498T>C | |
| NM_001195812.1:c.-273-10498T>C | NP_001182741.1:n.-273-10498T>C | |
| NM_152666.2:c.190-10498T>C | NP_689879.2:n.190-10498T>C | |
| XM_006711752.1:c.190-10498T>C | XP_006711815.1:n.190-10498T>C | |
| XM_011544115.1:c.-84-10498T>C | XP_011542417.1:n.-84-10498T>C | |
| XM_011544116.1:c.-84-10498T>C | XP_011542418.1:n.-84-10498T>C | |
| XM_011544118.1:c.-94-10498T>C | XP_011542420.1:n.-94-10498T>C | |
| NM_001320272.1:c.-94-10498T>C | NP_001307201.1:n.-94-10498T>C | |
| XM_006711752.3:c.190-10498T>C | XP_006711815.1:n.190-10498T>C | |
| XM_011544115.2:c.-84-10498T>C | XP_011542417.1:n.-84-10498T>C | |
| XM_011544116.2:c.-84-10498T>C | XP_011542418.1:n.-84-10498T>C | |
| XM_011544120.2:c.-410-10498T>C | XP_011542422.1:n.-410-10498T>C | |
| XM_017000567.2:c.-94-10498T>C | XP_016856056.1:n.-94-10498T>C | |
| XM_017000568.2:c.-94-10498T>C | XP_016856057.1:n.-94-10498T>C | |
| XM_017000569.1:c.-417-10498T>C | XP_016856058.1:n.-417-10498T>C | |
| XM_024453867.1:c.60+2212T>C | XP_024309635.1:n.60+2212T>C | |
| NM_001195812.2:c.-273-10498T>C | NP_001182741.1:n.-273-10498T>C | |
| NM_001320272.2:c.-94-10498T>C | NP_001307201.1:n.-94-10498T>C | |
| NM_001372062.1:c.190-10498T>C MANE Select | NP_001358991.1:n.190-10498T>C | |
| NM_001195811.2:c.4-10498T>C | NP_001182740.1:n.4-10498T>C |