Linked Data
ClinVar Variation Id:
98522
ClinVar RCV Id:
RCV000084813
dbSNP Id:
rs367543220
gnomAD v2:
19-54410003-G-T
gnomAD v4:
19-53906749-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53906749G>T , CM000681.2:g.53906749G>T | GRCh38 |
| NC_000019.9:g.54410003G>T , CM000681.1:g.54410003G>T | GRCh37 |
| NC_000019.8:g.59101815G>T | NCBI36 |
| NG_009114.1:g.29537G>T , LRG_669:g.29537G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.1948G>T | ENSP00000507230.1:p.Ala650Ser | |
| ENST00000682676.1:n.1349G>T | ||
| ENST00000683513.1:c.1840G>T | ENSP00000506809.1:p.Ala614Ser | |
| ENST00000263431.4:c.1948G>T MANE Select | ENSP00000263431.3:p.Ala650Ser | |
| ENST00000263431.3:c.1948G>T | ENSP00000263431.3:p.Ala650Ser | |
| NM_001316329.1:c.1948G>T | NP_001303258.1:p.Ala650Ser | |
| NM_002739.3:c.1948G>T , LRG_669t1:c.1948G>T | NP_002730.1:p.Ala650Ser | |
| NM_002739.4:c.1948G>T | NP_002730.1:p.Ala650Ser | |
| XM_011527108.1:c.1039G>T | XP_011525410.1:p.Ala347Ser | |
| NM_002739.5:c.1948G>T MANE Select | NP_002730.1:p.Ala650Ser | |
| NM_001316329.2:c.1948G>T | NP_001303258.1:p.Ala650Ser |