dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33088476T>C , CM000668.2:g.33088476T>C | GRCh38 |
| NC_000006.11:g.33056253T>C , CM000668.1:g.33056253T>C | GRCh37 |
| NC_000006.10:g.33164231T>C | NCBI36 |
| NG_033242.1:g.17551T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418931.7:c.*1942T>C MANE Select | ENSP00000408146.2:n.*1942T>C | |
| NM_002121.5:c.*1942T>C | NP_002112.3:n.*1942T>C | |
| NM_002121.6:c.*1942T>C MANE Select | NP_002112.3:n.*1942T>C |