Linked Data
dbSNP Id:
rs753789718
gnomAD v2:
6-36722850-C-T
gnomAD v3:
6-36755073-C-T
gnomAD v4:
6-36755073-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36755073C>T , CM000668.2:g.36755073C>T | GRCh38 |
| NC_000006.11:g.36722850C>T , CM000668.1:g.36722850C>T | GRCh37 |
| NC_000006.10:g.36830828C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000633136.2:c.960+1172G>A | ENSP00000487872.2:n.960+1172G>A | |
| ENST00000244751.7:c.909+1172G>A MANE Select | ENSP00000244751.2:n.909+1172G>A | |
| ENST00000244751.6:c.909+1172G>A | ENSP00000244751.2:n.909+1172G>A | |
| ENST00000393189.2:c.33+1172G>A | ENSP00000376885.2:n.33+1172G>A | |
| ENST00000459703.5:n.151+1172G>A | ||
| ENST00000493411.2:n.151+1172G>A | ||
| ENST00000633929.1:n.159+1172G>A | ||
| ENST00000634222.1:n.1342G>A | ||
| NM_001314018.1:c.33+1172G>A | NP_001300947.1:n.33+1172G>A | |
| NM_001314019.1:c.-183+1172G>A | NP_001300948.1:n.-183+1172G>A | |
| NM_001314020.1:c.-80+1172G>A | NP_001300949.1:n.-80+1172G>A | |
| NM_020939.1:c.909+1172G>A | NP_065990.1:n.909+1172G>A | |
| XM_005249247.1:c.960+1172G>A | XP_005249304.1:n.960+1172G>A | |
| XM_005249249.2:c.960+1172G>A | XP_005249306.1:n.960+1172G>A | |
| XM_011514768.1:c.960+1172G>A | XP_011513070.1:n.960+1172G>A | |
| XM_011514769.1:c.909+1172G>A | XP_011513071.1:n.909+1172G>A | |
| XM_011514770.1:c.846+1172G>A | XP_011513072.1:n.846+1172G>A | |
| XM_011514771.1:c.846+1172G>A | XP_011513073.1:n.846+1172G>A | |
| XM_011514772.1:c.960+1172G>A | XP_011513074.1:n.960+1172G>A | |
| XM_011514773.1:c.369+1172G>A | XP_011513075.1:n.369+1172G>A | |
| XM_011514774.1:c.960+1172G>A | XP_011513076.1:n.960+1172G>A | |
| XM_011514775.1:c.33+1172G>A | XP_011513077.1:n.33+1172G>A | |
| XM_011514776.1:c.-183+1172G>A | XP_011513078.1:n.-183+1172G>A | |
| XM_011514777.1:c.-80+1172G>A | XP_011513079.1:n.-80+1172G>A | |
| XM_011514778.1:c.-80+1172G>A | XP_011513080.1:n.-80+1172G>A | |
| XR_241909.1:n.1027+1172G>A | ||
| XR_926291.1:n.1027+1172G>A | ||
| XM_005249247.2:c.960+1172G>A | XP_005249304.1:n.960+1172G>A | |
| XM_011514771.2:c.846+1172G>A | XP_011513073.1:n.846+1172G>A | |
| XM_011514773.2:c.369+1172G>A | XP_011513075.1:n.369+1172G>A | |
| XM_011514775.2:c.33+1172G>A | XP_011513077.1:n.33+1172G>A | |
| XM_017011139.2:c.516+1172G>A | XP_016866628.1:n.516+1172G>A | |
| XM_024446500.1:c.-80+1172G>A | XP_024302268.1:n.-80+1172G>A | |
| XR_001743541.1:n.1027+1172G>A | ||
| XR_002956290.1:n.1027+1172G>A | ||
| XR_002956291.1:n.1027+1172G>A | ||
| NM_020939.2:c.909+1172G>A MANE Select | NP_065990.1:n.909+1172G>A | |
| NM_001314019.2:c.-183+1172G>A | NP_001300948.1:n.-183+1172G>A | |
| NM_001314020.2:c.-80+1172G>A | NP_001300949.1:n.-80+1172G>A | |
| NM_001376888.1:c.-80+1172G>A | NP_001363817.1:n.-80+1172G>A | |
| NM_001376889.1:c.960+1172G>A | NP_001363818.1:n.960+1172G>A | |
| NM_001376890.1:c.33+1172G>A | NP_001363819.1:n.33+1172G>A | |
| NM_001376891.1:c.33+1172G>A | NP_001363820.1:n.33+1172G>A | |
| NM_001376892.1:c.-80+1172G>A | NP_001363821.1:n.-80+1172G>A | |
| NM_001376893.1:c.-183+1172G>A | NP_001363822.1:n.-183+1172G>A | |
| NM_001376894.1:c.33+1172G>A | NP_001363823.1:n.33+1172G>A | |
| NM_001376895.1:c.33+1172G>A | NP_001363824.1:n.33+1172G>A | |
| NM_001314018.2:c.33+1172G>A | NP_001300947.1:n.33+1172G>A |