Linked Data
dbSNP Id:
rs1013608527
gnomAD v2:
4-68606017-C-T
gnomAD v3:
4-67740299-C-T
gnomAD v4:
4-67740299-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740299C>T , CM000666.2:g.67740299C>T | GRCh38 |
| NC_000004.11:g.68606017C>T , CM000666.1:g.68606017C>T | GRCh37 |
| NC_000004.10:g.68288612C>T | NCBI36 |
| NG_009293.1:g.20788G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.*181G>A MANE Select | ENSP00000226413.5:n.*181G>A | |
| ENST00000226413.4:c.*181G>A | ENSP00000226413.4:n.*181G>A | |
| NM_000406.2:c.*181G>A | NP_000397.1:n.*181G>A | |
| NM_001012763.1:c.*290G>A | NP_001012781.1:n.*290G>A | |
| NM_000406.3:c.*181G>A MANE Select | NP_000397.1:n.*181G>A | |
| NM_001012763.2:c.*290G>A | NP_001012781.1:n.*290G>A |