Linked Data
dbSNP Id:
rs12562192
gnomAD v2:
1-240559446-A-T
gnomAD v3:
1-240396146-A-T
gnomAD v4:
1-240396146-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.240396146A>T , CM000663.2:g.240396146A>T | GRCh38 |
| NC_000001.10:g.240559446A>T , CM000663.1:g.240559446A>T | GRCh37 |
| NC_000001.9:g.238626069A>T | NCBI36 |
| NG_042054.1:g.309262A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319653.14:c.4910+3584A>T MANE Select | ENSP00000318884.9:n.4910+3584A>T | |
| ENST00000545751.3:c.751+3584A>T | ||
| ENST00000679390.1:n.1172+3584A>T | ||
| ENST00000679646.1:n.4376+3584A>T | ||
| ENST00000679980.1:c.1179+3584A>T | ||
| ENST00000681131.1:c.910+3584A>T | ||
| ENST00000681210.1:c.1130+3584A>T | ENSP00000505131.1:n.1130+3584A>T | |
| ENST00000681296.1:n.2097+3584A>T | ||
| ENST00000681741.1:c.*954+3584A>T | ENSP00000505116.1:n.*954+3584A>T | |
| ENST00000681805.1:c.795+3584A>T | ||
| ENST00000681824.1:c.1037+3584A>T | ENSP00000505818.1:n.1037+3584A>T | |
| ENST00000319653.13:c.4910+3584A>T | ENSP00000318884.9:n.4910+3584A>T | |
| ENST00000545751.2:c.338+3584A>T | ENSP00000437918.2:n.338+3584A>T | |
| NM_001305424.1:c.4922+3584A>T | NP_001292353.1:n.4922+3584A>T | |
| NM_020066.4:c.4910+3584A>T | NP_064450.3:n.4910+3584A>T | |
| NM_001348094.1:c.2738+3584A>T | NP_001335023.1:n.2738+3584A>T | |
| XM_017001840.2:c.3050+3584A>T | XP_016857329.1:n.3050+3584A>T | |
| XM_017001841.2:c.3050+3584A>T | XP_016857330.1:n.3050+3584A>T | |
| NM_020066.5:c.4910+3584A>T MANE Select | NP_064450.3:n.4910+3584A>T | |
| NM_001305424.2:c.4922+3584A>T | NP_001292353.1:n.4922+3584A>T | |
| NM_001348094.2:c.2738+3584A>T | NP_001335023.1:n.2738+3584A>T |