dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.73238127G>T , CM000673.2:g.73238127G>T | GRCh38 |
| NC_000011.9:g.72949172G>T , CM000673.1:g.72949172G>T | GRCh37 |
| NC_000011.8:g.72626820G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393597.7:c.*2834G>T MANE Select | ENSP00000377222.2:n.*2834G>T | |
| NM_002564.3:c.*2834G>T | NP_002555.3:n.*2834G>T | |
| NM_176071.2:c.*2834G>T | NP_788085.2:n.*2834G>T | |
| NM_176072.2:c.*2834G>T | NP_788086.2:n.*2834G>T | |
| XR_001747890.1:n.1933+2387G>T | ||
| XR_001747891.1:n.1933+2387G>T | ||
| XR_001747892.1:n.1933+2387G>T | ||
| NM_002564.4:c.*2834G>T MANE Select | NP_002555.4:n.*2834G>T | |
| NM_176071.3:c.*2834G>T | NP_788085.3:n.*2834G>T | |
| NM_176072.3:c.*2834G>T | NP_788086.3:n.*2834G>T |