Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43952838C>G , CM000679.2:g.43952838C>G | GRCh38 |
| NC_000017.10:g.42030206C>G , CM000679.1:g.42030206C>G | GRCh37 |
| NC_000017.9:g.39385732C>G | NCBI36 |
| NG_023338.1:g.56632G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592796.2:c.*267G>C | ENSP00000467310.1:n.*267G>C | |
| ENST00000692052.1:c.*118G>C MANE Select | ENSP00000509262.1:n.*118G>C | |
| ENST00000360085.6:c.*118G>C | ENSP00000353198.1:n.*118G>C | |
| NM_004160.4:c.*118G>C | NP_004151.3:n.*118G>C | |
| XM_011525035.1:c.*118G>C | XP_011523337.1:n.*118G>C | |
| NM_004160.5:c.*118G>C | NP_004151.3:n.*118G>C | |
| NM_001394028.1:c.*118G>C MANE Select | NP_001380957.1:n.*118G>C | |
| NM_001394029.1:c.*267G>C | NP_001380958.1:n.*267G>C | |
| NM_004160.6:c.*118G>C | NP_004151.4:n.*118G>C |