Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8732094C>T , CM000685.2:g.8732094C>T | GRCh38 |
| NC_000023.10:g.8700135C>T , CM000685.1:g.8700135C>T | GRCh37 |
| NC_000023.9:g.8660135C>T | NCBI36 |
| NG_007088.1:g.5093G>A | |
| NG_007088.2:g.5093G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.-58G>A MANE Select | ENSP00000262648.3:n.-58G>A | |
| ENST00000262648.7:c.-58G>A | ENSP00000262648.3:n.-58G>A | |
| ENST00000619786.1:c.-58G>A | ENSP00000478734.1:n.-58G>A | |
| NM_000216.2:c.-58G>A | NP_000207.2:n.-58G>A | |
| XM_005274501.3:c.-58G>A | XP_005274558.1:n.-58G>A | |
| NM_000216.3:c.-58G>A | NP_000207.2:n.-58G>A | |
| XM_005274501.4:c.-58G>A | XP_005274558.1:n.-58G>A | |
| NM_000216.4:c.-58G>A MANE Select | NP_000207.2:n.-58G>A |