Linked Data
dbSNP Id:
rs542566291
ExAC:
4:68606378 C / T
gnomAD v2:
4-68606378-C-T
gnomAD v3:
4-67740660-C-T
gnomAD v4:
4-67740660-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740660C>T , CM000666.2:g.67740660C>T | GRCh38 |
| NC_000004.11:g.68606378C>T , CM000666.1:g.68606378C>T | GRCh37 |
| NC_000004.10:g.68288973C>T | NCBI36 |
| NG_009293.1:g.20427G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.807G>A MANE Select | ENSP00000226413.5:p.Thr269= | |
| ENST00000226413.4:c.807G>A | ENSP00000226413.4:p.Thr269= | |
| ENST00000420975.2:c.679G>A | ENSP00000397561.2:p.Gly227Ser | |
| NM_000406.2:c.807G>A | NP_000397.1:p.Thr269= | |
| NM_001012763.1:c.679G>A | NP_001012781.1:p.Gly227Ser | |
| NM_000406.3:c.807G>A MANE Select | NP_000397.1:p.Thr269= | |
| NM_001012763.2:c.679G>A | NP_001012781.1:p.Gly227Ser |