Linked Data
dbSNP Id:
rs7957197
gnomAD v2:
12-121460686-T-A
gnomAD v3:
12-121022883-T-A
gnomAD v4:
12-121022883-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121022883T>A , CM000674.2:g.121022883T>A | GRCh38 |
| NC_000012.11:g.121460686T>A , CM000674.1:g.121460686T>A | GRCh37 |
| NC_000012.10:g.119945069T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257570.10:c.1047+1107A>T MANE Select | ENSP00000257570.4:n.1047+1107A>T | |
| ENST00000339275.10:c.*37+1107A>T | ENSP00000341125.5:n.*37+1107A>T | |
| ENST00000620239.5:c.658-1825A>T | ENSP00000479512.1:n.658-1825A>T | |
| ENST00000679655.1:c.1047+1107A>T | ENSP00000506490.1:n.1047+1107A>T | |
| ENST00000680485.1:c.*279+1107A>T | ENSP00000506721.1:n.*279+1107A>T | |
| ENST00000680620.1:c.1047+1107A>T | ENSP00000505685.1:n.1047+1107A>T | |
| ENST00000680750.1:n.1591+1107A>T | ||
| ENST00000681005.1:n.653+1107A>T | ||
| ENST00000681590.1:c.*521+1107A>T | ENSP00000506074.1:n.*521+1107A>T | |
| ENST00000257570.9:c.1047+1107A>T | ENSP00000257570.4:n.1047+1107A>T | |
| ENST00000339275.9:c.*37+1107A>T | ENSP00000341125.5:n.*37+1107A>T | |
| ENST00000620239.4:c.658-1825A>T | ENSP00000479512.1:n.658-1825A>T | |
| NM_001261825.1:c.658-1825A>T | NP_001248754.1:n.658-1825A>T | |
| NM_003733.3:c.1047+1107A>T | NP_003724.1:n.1047+1107A>T | |
| NM_198213.2:c.*37+1107A>T | NP_937856.1:n.*37+1107A>T | |
| XM_017020140.1:c.1047+1107A>T | XP_016875629.1:n.1047+1107A>T | |
| XM_017020141.1:c.*37+1107A>T | XP_016875630.1:n.*37+1107A>T | |
| NM_001261825.2:c.658-1825A>T | NP_001248754.1:n.658-1825A>T | |
| NM_001395418.1:c.*37+1107A>T | NP_001382347.1:n.*37+1107A>T | |
| NM_001395419.1:c.1047+1107A>T | NP_001382348.1:n.1047+1107A>T | |
| NM_003733.4:c.1047+1107A>T MANE Select | NP_003724.1:n.1047+1107A>T | |
| NM_198213.3:c.*37+1107A>T | NP_937856.1:n.*37+1107A>T |