dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.118256880G>T , CM000668.2:g.118256880G>T | GRCh38 |
| NC_000006.11:g.118578043G>T , CM000668.1:g.118578043G>T | GRCh37 |
| NC_000006.10:g.118684736G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360388.9:c.478-10115G>T MANE Select | ENSP00000353557.4:n.478-10115G>T | |
| ENST00000360388.8:c.478-10115G>T | ENSP00000353557.4:n.478-10115G>T | |
| ENST00000621341.1:c.301-10115G>T | ENSP00000484738.1:n.301-10115G>T | |
| NM_001029858.3:c.478-10115G>T | NP_001025029.2:n.478-10115G>T | |
| XM_005266865.3:c.478-10115G>T | XP_005266922.1:n.478-10115G>T | |
| XM_005266865.4:c.478-10115G>T | XP_005266922.1:n.478-10115G>T | |
| NM_001029858.4:c.478-10115G>T MANE Select | NP_001025029.2:n.478-10115G>T |