Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084440C>G , CM000685.2:g.108084440C>G | GRCh38 |
| NC_000023.10:g.107327670C>G , CM000685.1:g.107327670C>G | GRCh37 |
| NC_000023.9:g.107214326C>G | NCBI36 |
| NG_012521.1:g.12179G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217958.8:c.*534G>C MANE Select | ENSP00000217958.3:n.*534G>C | |
| ENST00000217958.7:c.*534G>C | ENSP00000217958.3:n.*534G>C | |
| NM_002814.3:c.*534G>C | NP_002805.1:n.*534G>C | |
| NM_170750.2:c.*680G>C | NP_736606.1:n.*680G>C | |
| NM_002814.4:c.*534G>C MANE Select | NP_002805.1:n.*534G>C | |
| NM_170750.3:c.*680G>C | NP_736606.1:n.*680G>C |