Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46827811C>A , CM000673.2:g.46827811C>A | GRCh38 |
| NC_000011.9:g.46849362C>A , CM000673.1:g.46849362C>A | GRCh37 |
| NC_000011.8:g.46805938C>A | NCBI36 |
| NG_029924.1:g.23498G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529230.6:c.-37-6543G>T MANE Select | ENSP00000432768.1:n.-37-6543G>T | |
| ENST00000312055.9:c.-37-6543G>T | ENSP00000310227.5:n.-37-6543G>T | |
| ENST00000525248.1:n.78-6563G>T | ||
| ENST00000529230.5:c.-37-6543G>T | ENSP00000432768.1:n.-37-6543G>T | |
| NM_001008938.3:c.-37-6543G>T | NP_001008938.1:n.-37-6543G>T | |
| NM_014756.3:c.-37-6543G>T | NP_055571.2:n.-37-6543G>T | |
| NM_001008938.4:c.-37-6543G>T MANE Select | NP_001008938.1:n.-37-6543G>T | |
| NM_014756.4:c.-37-6543G>T | NP_055571.2:n.-37-6543G>T |