Linked Data
dbSNP Id:
rs182412928
gnomAD v2:
12-110253904-G-A
gnomAD v3:
12-109816099-G-A
gnomAD v4:
12-109816099-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109816099G>A , CM000674.2:g.109816099G>A | GRCh38 |
| NC_000012.11:g.110253904G>A , CM000674.1:g.110253904G>A | GRCh37 |
| NC_000012.10:g.108738287G>A | NCBI36 |
| NG_017090.1:g.22309C>T , LRG_372:g.22309C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.-31-1272C>T MANE Select | ENSP00000261740.2:n.-31-1272C>T | |
| ENST00000674908.1:c.-31-1272C>T | ENSP00000502012.1:n.-31-1272C>T | |
| ENST00000675670.1:c.-31-1272C>T | ENSP00000502135.1:n.-31-1272C>T | |
| ENST00000261740.6:c.-31-1272C>T | ENSP00000261740.2:n.-31-1272C>T | |
| ENST00000536570.1:n.419-1272C>T | ||
| ENST00000538125.5:c.-31-1272C>T | ENSP00000437449.1:n.-31-1272C>T | |
| NM_021625.4:c.-31-1272C>T , LRG_372t1:c.-31-1272C>T | NP_067638.3:n.-31-1272C>T | |
| XM_005253918.1:c.-31-1272C>T | XP_005253975.1:n.-31-1272C>T | |
| XM_011538630.1:c.-31-1272C>T | XP_011536932.1:n.-31-1272C>T | |
| XM_011538631.1:c.-31-1272C>T | XP_011536933.1:n.-31-1272C>T | |
| XM_011538632.1:c.-31-1272C>T | XP_011536934.1:n.-31-1272C>T | |
| XM_011538633.1:c.-31-1272C>T | XP_011536935.1:n.-31-1272C>T | |
| XM_011538634.1:c.-31-1272C>T | XP_011536936.1:n.-31-1272C>T | |
| XM_011538635.1:c.123-1272C>T | XP_011536937.1:n.123-1272C>T | |
| XM_011538636.1:c.123-1272C>T | XP_011536938.1:n.123-1272C>T | |
| XM_011538630.2:c.123-1272C>T | XP_011536932.2:n.123-1272C>T | |
| XM_011538631.2:c.123-1272C>T | XP_011536933.2:n.123-1272C>T | |
| XM_011538632.2:c.123-1272C>T | XP_011536934.2:n.123-1272C>T | |
| XM_011538633.2:c.123-1272C>T | XP_011536935.2:n.123-1272C>T | |
| XM_011538634.2:c.123-1272C>T | XP_011536936.2:n.123-1272C>T | |
| XM_011538635.2:c.123-1272C>T | XP_011536937.1:n.123-1272C>T | |
| XM_017019774.1:c.-31-1272C>T | XP_016875263.1:n.-31-1272C>T | |
| NM_021625.5:c.-31-1272C>T MANE Select | NP_067638.3:n.-31-1272C>T |