Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33005849G>T , CM000668.2:g.33005849G>T | GRCh38 |
| NC_000006.11:g.32973626G>T , CM000668.1:g.32973626G>T | GRCh37 |
| NC_000006.10:g.33081604G>T | NCBI36 |
| NG_012007.1:g.8764C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229829.7:c.*989C>A MANE Select | ENSP00000229829.3:n.*989C>A | |
| ENST00000229829.6:c.*989C>A | ENSP00000229829.3:n.*989C>A | |
| NM_002119.3:c.*989C>A | NP_002110.1:n.*989C>A | |
| NM_002119.4:c.*989C>A MANE Select | NP_002110.1:n.*989C>A |