dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33087761C>G , CM000668.2:g.33087761C>G | GRCh38 |
| NC_000006.11:g.33055538C>G , CM000668.1:g.33055538C>G | GRCh37 |
| NC_000006.10:g.33163516C>G | NCBI36 |
| NG_033242.1:g.16836C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418931.7:c.*1227C>G MANE Select | ENSP00000408146.2:n.*1227C>G | |
| NM_002121.5:c.*1227C>G | NP_002112.3:n.*1227C>G | |
| NM_002121.6:c.*1227C>G MANE Select | NP_002112.3:n.*1227C>G |