Linked Data
dbSNP Id:
rs2109988273
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67754341C>T , CM000666.2:g.67754341C>T | GRCh38 |
| NC_000004.11:g.68620059C>T , CM000666.1:g.68620059C>T | GRCh37 |
| NC_000004.10:g.68302654C>T | NCBI36 |
| NG_009293.1:g.6746G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.-6G>A MANE Select | ENSP00000226413.5:n.-6G>A | |
| ENST00000226413.4:c.-6G>A | ENSP00000226413.4:n.-6G>A | |
| NM_000406.2:c.-6G>A | NP_000397.1:n.-6G>A | |
| NM_001012763.1:c.-6G>A | NP_001012781.1:n.-6G>A | |
| NM_000406.3:c.-6G>A MANE Select | NP_000397.1:n.-6G>A | |
| NM_001012763.2:c.-6G>A | NP_001012781.1:n.-6G>A |