Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131573218C>T , CM000668.2:g.131573218C>T | GRCh38 |
| NC_000006.11:g.131894358C>T , CM000668.1:g.131894358C>T | GRCh37 |
| NC_000006.10:g.131936051C>T | NCBI36 |
| NG_007086.2:g.4994C>T | |
| NG_031860.1:g.60006G>A | |
| NG_031860.2:g.60006G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672052.1:n.305-3445C>T | ||
| ENST00000672233.1:c.77-5893C>T | ENSP00000499826.1:n.77-5893C>T | |
| ENST00000673234.1:c.77-3445C>T | ENSP00000499885.1:n.77-3445C>T | |
| ENST00000368087.7:c.-65C>T | ENSP00000357066.3:n.-65C>T | |
| ENST00000469293.1:n.25C>T | ||
| NM_000045.3:c.-65C>T | NP_000036.2:n.-65C>T | |
| NM_001244438.1:c.-65C>T | NP_001231367.1:n.-65C>T | |
| XM_011535801.1:c.-65C>T | XP_011534103.1:n.-65C>T | |
| XM_011535801.2:c.-65C>T | XP_011534103.1:n.-65C>T |