Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91950005C>T , CM000671.2:g.91950005C>T | GRCh38 |
| NC_000009.11:g.94712287C>T , CM000671.1:g.94712287C>T | GRCh37 |
| NC_000009.10:g.93752108C>T | NCBI36 |
| NG_008089.1:g.5158G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.-42G>A MANE Select | ENSP00000364860.3:n.-42G>A | |
| ENST00000375708.3:c.-42G>A | ENSP00000364860.3:n.-42G>A | |
| NM_004560.3:c.-42G>A | NP_004551.2:n.-42G>A | |
| NM_001318204.1:c.-42G>A | NP_001305133.1:n.-42G>A | |
| XR_001746315.1:n.202G>A | ||
| NM_004560.4:c.-42G>A MANE Select | NP_004551.2:n.-42G>A | |
| NM_001318204.2:c.-42G>A | NP_001305133.1:n.-42G>A |