Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99307309T>G , CM000666.2:g.99307309T>G | GRCh38 |
| NC_000004.11:g.100228466T>G , CM000666.1:g.100228466T>G | GRCh37 |
| NC_000004.10:g.100447489T>G | NCBI36 |
| NG_011435.1:g.19107A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000668.6:c.*531A>C MANE Select | NP_000659.2:n.*531A>C |
| ENST00000305046.13:c.*531A>C MANE Select | ENSP00000306606.8:n.*531A>C |
| NM_000668.5:c.*531A>C | NP_000659.2:n.*531A>C |
| NM_001286650.1:c.*531A>C | NP_001273579.1:n.*531A>C |
| NM_001286650.2:c.*531A>C | NP_001273579.1:n.*531A>C |
| ENST00000305046.12:c.*531A>C | ENSP00000306606.8:n.*531A>C |
| ENST00000515694.4:n.3754A>C | |
| ENST00000625860.2:c.*531A>C | ENSP00000486614.1:n.*531A>C |