Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91950013C>T , CM000671.2:g.91950013C>T | GRCh38 |
| NC_000009.11:g.94712295C>T , CM000671.1:g.94712295C>T | GRCh37 |
| NC_000009.10:g.93752116C>T | NCBI36 |
| NG_008089.1:g.5150G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.-50G>A MANE Select | ENSP00000364860.3:n.-50G>A | |
| ENST00000375708.3:c.-50G>A | ENSP00000364860.3:n.-50G>A | |
| NM_004560.3:c.-50G>A | NP_004551.2:n.-50G>A | |
| NM_001318204.1:c.-50G>A | NP_001305133.1:n.-50G>A | |
| XR_001746315.1:n.194G>A | ||
| NM_004560.4:c.-50G>A MANE Select | NP_004551.2:n.-50G>A | |
| NM_001318204.2:c.-50G>A | NP_001305133.1:n.-50G>A |