Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91950004G= , CM000671.2:g.91950004G= | GRCh38 |
| NC_000009.11:g.94712286G= , CM000671.1:g.94712286G= | GRCh37 |
| NC_000009.10:g.93752107G= | NCBI36 |
| NG_008089.1:g.5159C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.-41C= MANE Select | ENSP00000364860.3:n.-41C= | |
| ENST00000375708.3:c.-41C= | ENSP00000364860.3:n.-41C= | |
| NM_004560.3:c.-41C= | NP_004551.2:n.-41C= | |
| NM_001318204.1:c.-41C= | NP_001305133.1:n.-41C= | |
| XR_001746315.1:n.203C= | ||
| NM_004560.4:c.-41C= MANE Select | NP_004551.2:n.-41C= | |
| NM_001318204.2:c.-41C= | NP_001305133.1:n.-41C= |