Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63146754T>G , CM000674.2:g.63146754T>G | GRCh38 |
| NC_000012.11:g.63540534T>G , CM000674.1:g.63540534T>G | GRCh37 |
| NC_000012.10:g.61826801T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299178.4:c.*605A>C MANE Select | ENSP00000299178.3:n.*605A>C | |
| ENST00000299178.3:c.*605A>C | ENSP00000299178.2:n.*605A>C | |
| ENST00000550940.1:c.538+667A>C | ENSP00000449822.1:n.538+667A>C | |
| NM_000706.4:c.*605A>C | NP_000697.1:n.*605A>C | |
| XM_005269002.3:c.*605A>C | XP_005269059.1:n.*605A>C | |
| NM_000706.5:c.*605A>C MANE Select | NP_000697.1:n.*605A>C |