Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15444605G>C , CM000663.2:g.15444605G>C | GRCh38 |
| NC_000001.10:g.15771100G>C , CM000663.1:g.15771100G>C | GRCh37 |
| NC_000001.9:g.15643687G>C | NCBI36 |
| NG_009253.1:g.11163G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007272.3:c.494-1G>C MANE Select | NP_009203.2:n.494-1G>C |
| ENST00000375949.5:c.494-1G>C MANE Select | ENSP00000365116.4:n.494-1G>C |
| NM_007272.2:c.494-1G>C | NP_009203.2:n.494-1G>C |
| ENST00000375943.6:c.*94-992G>C | ENSP00000365110.2:n.*94-992G>C |
| ENST00000375949.4:c.494-1G>C | ENSP00000365116.4:n.494-1G>C |
| ENST00000483406.1:n.404-992G>C | |
| XM_011540550.1:c.494-992G>C | XP_011538852.1:n.494-992G>C |