Linked Data
ClinVar Variation Id:
2719976
ClinVar RCV Id:
RCV003553869
dbSNP Id:
rs770840359
ExAC:
1:109807196 G / A
gnomAD v4:
1-109264574-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109264574G>A , CM000663.2:g.109264574G>A | GRCh38 |
| NC_000001.10:g.109807196G>A , CM000663.1:g.109807196G>A | GRCh37 |
| NC_000001.9:g.109608719G>A | NCBI36 |
| NG_052669.1:g.19870G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.5410G>A MANE Select | ENSP00000271332.3:p.Ala1804Thr | |
| ENST00000271332.3:c.5410G>A | ENSP00000271332.3:p.Ala1804Thr | |
| NM_001408.2:c.5410G>A | NP_001399.1:p.Ala1804Thr | |
| XM_005270580.3:c.5410G>A | XP_005270637.1:p.Ala1804Thr | |
| NM_001408.3:c.5410G>A MANE Select | NP_001399.1:p.Ala1804Thr |