Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91950134C>A , CM000671.2:g.91950134C>A | GRCh38 |
| NC_000009.11:g.94712416C>A , CM000671.1:g.94712416C>A | GRCh37 |
| NC_000009.10:g.93752237C>A | NCBI36 |
| NG_008089.1:g.5029G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.-171G>T MANE Select | ENSP00000364860.3:n.-171G>T | |
| ENST00000375708.3:c.-171G>T | ENSP00000364860.3:n.-171G>T | |
| NM_004560.3:c.-171G>T | NP_004551.2:n.-171G>T | |
| NM_001318204.1:c.-171G>T | NP_001305133.1:n.-171G>T | |
| XR_001746315.1:n.73G>T | ||
| NM_004560.4:c.-171G>T MANE Select | NP_004551.2:n.-171G>T | |
| NM_001318204.2:c.-171G>T | NP_001305133.1:n.-171G>T |