Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183230960G>C , CM000663.2:g.183230960G>C | GRCh38 |
| NC_000001.10:g.183200095G>C , CM000663.1:g.183200095G>C | GRCh37 |
| NC_000001.9:g.181466718G>C | NCBI36 |
| NG_007079.2:g.49697G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005562.3:c.1715-1G>C MANE Select | NP_005553.2:n.1715-1G>C |
| ENST00000264144.5:c.1715-1G>C MANE Select | ENSP00000264144.4:n.1715-1G>C |
| NM_005562.2:c.1715-1G>C | NP_005553.2:n.1715-1G>C |
| NM_018891.2:c.1715-1G>C | NP_061486.2:n.1715-1G>C |
| NM_018891.3:c.1715-1G>C | NP_061486.2:n.1715-1G>C |
| ENST00000264144.4:c.1715-1G>C | ENSP00000264144.4:n.1715-1G>C |
| ENST00000493293.5:c.1715-1G>C | ENSP00000432063.1:n.1715-1G>C |
| XM_017001273.2:c.1715-1G>C | XP_016856762.1:n.1715-1G>C |