Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99307788T>A , CM000666.2:g.99307788T>A | GRCh38 |
| NC_000004.11:g.100228945T>A , CM000666.1:g.100228945T>A | GRCh37 |
| NC_000004.10:g.100447968T>A | NCBI36 |
| NG_011435.1:g.18628A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000668.6:c.*52A>T MANE Select | NP_000659.2:n.*52A>T |
| ENST00000305046.13:c.*52A>T MANE Select | ENSP00000306606.8:n.*52A>T |
| NM_000668.5:c.*52A>T | NP_000659.2:n.*52A>T |
| NM_001286650.1:c.*52A>T | NP_001273579.1:n.*52A>T |
| NM_001286650.2:c.*52A>T | NP_001273579.1:n.*52A>T |
| ENST00000305046.12:c.*52A>T | ENSP00000306606.8:n.*52A>T |
| ENST00000506651.5:c.*52A>T | ENSP00000425998.2:n.*52A>T |
| ENST00000515694.4:n.3275A>T | |
| ENST00000625860.2:c.*52A>T | ENSP00000486614.1:n.*52A>T |