Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46827826G>T , CM000673.2:g.46827826G>T | GRCh38 |
| NC_000011.9:g.46849377G>T , CM000673.1:g.46849377G>T | GRCh37 |
| NC_000011.8:g.46805953G>T | NCBI36 |
| NG_029924.1:g.23483C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529230.6:c.-37-6558C>A MANE Select | ENSP00000432768.1:n.-37-6558C>A | |
| ENST00000312055.9:c.-37-6558C>A | ENSP00000310227.5:n.-37-6558C>A | |
| ENST00000525248.1:n.78-6578C>A | ||
| ENST00000529230.5:c.-37-6558C>A | ENSP00000432768.1:n.-37-6558C>A | |
| NM_001008938.3:c.-37-6558C>A | NP_001008938.1:n.-37-6558C>A | |
| NM_014756.3:c.-37-6558C>A | NP_055571.2:n.-37-6558C>A | |
| NM_001008938.4:c.-37-6558C>A MANE Select | NP_001008938.1:n.-37-6558C>A | |
| NM_014756.4:c.-37-6558C>A | NP_055571.2:n.-37-6558C>A |