Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084785G>A , CM000685.2:g.108084785G>A | GRCh38 |
| NC_000023.10:g.107328015G>A , CM000685.1:g.107328015G>A | GRCh37 |
| NC_000023.9:g.107214671G>A | NCBI36 |
| NG_012521.1:g.11834C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217958.8:c.*189C>T MANE Select | ENSP00000217958.3:n.*189C>T | |
| ENST00000217958.7:c.*189C>T | ENSP00000217958.3:n.*189C>T | |
| ENST00000372295.5:c.*189C>T | ENSP00000361369.1:n.*189C>T | |
| ENST00000372296.5:c.*335C>T | ENSP00000361370.1:n.*335C>T | |
| NM_002814.3:c.*189C>T | NP_002805.1:n.*189C>T | |
| NM_170750.2:c.*335C>T | NP_736606.1:n.*335C>T | |
| NM_002814.4:c.*189C>T MANE Select | NP_002805.1:n.*189C>T | |
| NM_170750.3:c.*335C>T | NP_736606.1:n.*335C>T |