Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183218489G>C , CM000663.2:g.183218489G>C | GRCh38 |
| NC_000001.10:g.183187624G>C , CM000663.1:g.183187624G>C | GRCh37 |
| NC_000001.9:g.181454247G>C | NCBI36 |
| NG_007079.2:g.37226G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264144.5:c.503+1G>C MANE Select | ENSP00000264144.4:n.503+1G>C | |
| ENST00000264144.4:c.503+1G>C | ENSP00000264144.4:n.503+1G>C | |
| ENST00000493293.5:c.503+1G>C | ENSP00000432063.1:n.503+1G>C | |
| NM_005562.2:c.503+1G>C | NP_005553.2:n.503+1G>C | |
| NM_018891.2:c.503+1G>C | NP_061486.2:n.503+1G>C | |
| XM_017001273.2:c.503+1G>C | XP_016856762.1:n.503+1G>C | |
| NM_005562.3:c.503+1G>C MANE Select | NP_005553.2:n.503+1G>C | |
| NM_018891.3:c.503+1G>C | NP_061486.2:n.503+1G>C |