Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150992643T>C , CM000669.2:g.150992643T>C | GRCh38 |
| NC_000007.13:g.150689731T>C , CM000669.1:g.150689731T>C | GRCh37 |
| NC_000007.12:g.150320664T>C | NCBI36 |
| NG_011992.1:g.6585T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297494.8:c.-51-1110T>C MANE Select | ENSP00000297494.3:n.-51-1110T>C | |
| ENST00000297494.7:c.-51-1110T>C | ENSP00000297494.3:n.-51-1110T>C | |
| ENST00000461406.5:c.-149+1343T>C | ENSP00000417143.1:n.-149+1343T>C | |
| NM_000603.4:c.-51-1110T>C | NP_000594.2:n.-51-1110T>C | |
| NM_000603.5:c.-51-1110T>C MANE Select | NP_000594.2:n.-51-1110T>C |