Linked Data
dbSNP Id:
rs7100599
gnomAD v2:
10-70069233-G-A
gnomAD v3:
10-68309476-G-A
gnomAD v4:
10-68309476-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68309476G>A , CM000672.2:g.68309476G>A | GRCh38 |
| NC_000010.10:g.70069233G>A , CM000672.1:g.70069233G>A | GRCh37 |
| NC_000010.9:g.69739239G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358769.7:c.-59-2573C>T MANE Select | ENSP00000351619.2:n.-59-2573C>T | |
| ENST00000309049.8:c.-62-2570C>T | ENSP00000308466.4:n.-62-2570C>T | |
| ENST00000358769.6:c.-59-2573C>T | ENSP00000351619.2:n.-59-2573C>T | |
| ENST00000495025.2:c.-62-2570C>T | ENSP00000476306.1:n.-62-2570C>T | |
| NM_001033083.1:c.-59-2573C>T | NP_001028255.1:n.-59-2573C>T | |
| NM_022129.3:c.-59-2573C>T | NP_071412.2:n.-59-2573C>T | |
| XM_005270028.2:c.-62-2570C>T | XP_005270085.1:n.-62-2570C>T | |
| XM_005270029.3:c.-62-2570C>T | XP_005270086.1:n.-62-2570C>T | |
| XM_011540059.1:c.-62-2570C>T | XP_011538361.1:n.-62-2570C>T | |
| XM_011540060.1:c.-62-2570C>T | XP_011538362.1:n.-62-2570C>T | |
| XM_005270028.4:c.-62-2570C>T | XP_005270085.1:n.-62-2570C>T | |
| XM_011540060.3:c.-62-2570C>T | XP_011538362.1:n.-62-2570C>T | |
| XM_017016513.1:c.-59-2573C>T | XP_016872002.1:n.-59-2573C>T | |
| XM_017016514.1:c.-62-2570C>T | XP_016872003.1:n.-62-2570C>T | |
| NM_022129.4:c.-59-2573C>T MANE Select | NP_071412.2:n.-59-2573C>T | |
| NM_001033083.2:c.-59-2573C>T | NP_001028255.1:n.-59-2573C>T |