Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8570494C>T , CM000685.2:g.8570494C>T | GRCh38 |
| NC_000023.10:g.8538535C>T , CM000685.1:g.8538535C>T | GRCh37 |
| NC_000023.9:g.8498535C>T | NCBI36 |
| NG_007088.1:g.166693G>A | |
| NG_007088.2:g.166693G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.1062+5G>A MANE Select | ENSP00000262648.3:n.1062+5G>A | |
| ENST00000262648.7:c.1062+5G>A | ENSP00000262648.3:n.1062+5G>A | |
| ENST00000488294.1:n.152+5G>A | ||
| ENST00000619786.1:c.1059+5G>A | ENSP00000478734.1:n.1059+5G>A | |
| NM_000216.2:c.1062+5G>A | NP_000207.2:n.1062+5G>A | |
| XM_005274501.3:c.1062+5G>A | XP_005274558.1:n.1062+5G>A | |
| NM_000216.3:c.1062+5G>A | NP_000207.2:n.1062+5G>A | |
| XM_005274501.4:c.1062+5G>A | XP_005274558.1:n.1062+5G>A | |
| NM_000216.4:c.1062+5G>A MANE Select | NP_000207.2:n.1062+5G>A |