Linked Data
dbSNP Id:
rs900016254
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740409G>A , CM000666.2:g.67740409G>A | GRCh38 |
| NC_000004.11:g.68606127G>A , CM000666.1:g.68606127G>A | GRCh37 |
| NC_000004.10:g.68288722G>A | NCBI36 |
| NG_009293.1:g.20678C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.*71C>T MANE Select | ENSP00000226413.5:n.*71C>T | |
| ENST00000226413.4:c.*71C>T | ENSP00000226413.4:n.*71C>T | |
| NM_000406.2:c.*71C>T | NP_000397.1:n.*71C>T | |
| NM_001012763.1:c.*180C>T | NP_001012781.1:n.*180C>T | |
| NM_000406.3:c.*71C>T MANE Select | NP_000397.1:n.*71C>T | |
| NM_001012763.2:c.*180C>T | NP_001012781.1:n.*180C>T |