Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206122272C>A , CM000664.2:g.206122272C>A | GRCh38 |
| NC_000002.11:g.206986996C>A , CM000664.1:g.206986996C>A | GRCh37 |
| NC_000002.10:g.206695241C>A | NCBI36 |
| NG_009248.1:g.42192G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.*1913G>T MANE Select | ENSP00000233190.5:n.*1913G>T | |
| ENST00000233190.10:c.*1913G>T | ENSP00000233190.5:n.*1913G>T | |
| NM_001199981.2:c.*1913G>T | NP_001186910.1:n.*1913G>T | |
| NM_001199982.2:c.*1913G>T | NP_001186911.1:n.*1913G>T | |
| NM_001199983.2:c.*1913G>T | NP_001186912.1:n.*1913G>T | |
| NM_005006.7:c.*1913G>T MANE Select | NP_004997.4:n.*1913G>T | |
| NM_001199984.2:c.*1913G>T | NP_001186913.1:n.*1913G>T |