Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99307771G>A , CM000666.2:g.99307771G>A | GRCh38 |
| NC_000004.11:g.100228928G>A , CM000666.1:g.100228928G>A | GRCh37 |
| NC_000004.10:g.100447951G>A | NCBI36 |
| NG_011435.1:g.18645C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305046.13:c.*69C>T MANE Select | ENSP00000306606.8:n.*69C>T | |
| ENST00000305046.12:c.*69C>T | ENSP00000306606.8:n.*69C>T | |
| ENST00000506651.5:c.*69C>T | ENSP00000425998.2:n.*69C>T | |
| ENST00000515694.4:n.3292C>T | ||
| ENST00000625860.2:c.*69C>T | ENSP00000486614.1:n.*69C>T | |
| NM_000668.5:c.*69C>T | NP_000659.2:n.*69C>T | |
| NM_001286650.1:c.*69C>T | NP_001273579.1:n.*69C>T | |
| NM_000668.6:c.*69C>T MANE Select | NP_000659.2:n.*69C>T | |
| NM_001286650.2:c.*69C>T | NP_001273579.1:n.*69C>T |