Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.56101726C>T , CM000669.2:g.56101726C>T | GRCh38 |
| NC_000007.13:g.56169419C>T , CM000669.1:g.56169419C>T | GRCh37 |
| NC_000007.12:g.56136913C>T | NCBI36 |
| NG_046734.1:g.9905G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016139.4:c.*125G>A MANE Select | NP_057223.1:n.*125G>A |
| ENST00000395422.4:c.*125G>A MANE Select | ENSP00000378812.3:n.*125G>A |
| NM_001320327.1:c.*78G>A | NP_001307256.1:n.*78G>A |
| NM_001320327.2:c.*78G>A | NP_001307256.1:n.*78G>A |
| NM_016139.2:c.*125G>A | NP_057223.1:n.*125G>A |
| NM_016139.3:c.*125G>A | NP_057223.1:n.*125G>A |
| ENST00000395422.3:c.*125G>A | ENSP00000378812.3:n.*125G>A |