Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14208675G>C , CM000679.2:g.14208675G>C | GRCh38 |
| NC_000017.10:g.14111992G>C , CM000679.1:g.14111992G>C | GRCh37 |
| NC_000017.9:g.14052717G>C | NCBI36 |
| NG_008034.1:g.144274G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.*1462G>C MANE Select | ENSP00000261643.3:n.*1462G>C | |
| ENST00000664217.1:c.*177G>C | ENSP00000499396.1:n.*177G>C | |
| ENST00000670279.1:c.929-834G>C | ENSP00000499450.1:n.929-834G>C | |
| ENST00000261643.7:c.*1462G>C | ENSP00000261643.3:n.*1462G>C | |
| NM_001303.3:c.*1462G>C | NP_001294.2:n.*1462G>C | |
| XM_011523658.1:c.*1462G>C | XP_011521960.1:n.*1462G>C | |
| XR_933974.1:n.1032-834G>C | ||
| NM_001303.4:c.*1462G>C MANE Select | NP_001294.2:n.*1462G>C |