Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33005745T>A , CM000668.2:g.33005745T>A | GRCh38 |
| NC_000006.11:g.32973522T>A , CM000668.1:g.32973522T>A | GRCh37 |
| NC_000006.10:g.33081500T>A | NCBI36 |
| NG_012007.1:g.8868A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229829.7:c.*1093A>T MANE Select | ENSP00000229829.3:n.*1093A>T | |
| ENST00000229829.6:c.*1093A>T | ENSP00000229829.3:n.*1093A>T | |
| NM_002119.3:c.*1093A>T | NP_002110.1:n.*1093A>T | |
| NM_002119.4:c.*1093A>T MANE Select | NP_002110.1:n.*1093A>T |