Linked Data
ClinVar Variation Id:
2168971
ClinVar RCV Id:
RCV003082836
dbSNP Id:
rs1351496864
gnomAD v2:
20-61981132-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63349780G>A , CM000682.2:g.63349780G>A | GRCh38 |
| NC_000020.10:g.61981132G>A , CM000682.1:g.61981132G>A | GRCh37 |
| NC_000020.9:g.61451576G>A | NCBI36 |
| NG_011931.1:g.16564C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.1631C>T MANE Select | ENSP00000359285.4:p.Ala544Val | |
| ENST00000370263.8:c.1631C>T | ENSP00000359285.4:p.Ala544Val | |
| ENST00000463705.5:n.2279C>T | ||
| ENST00000467563.3:n.1701C>T | ||
| ENST00000498043.6:c.1655C>T | ||
| ENST00000615287.4:c.1418C>T | ENSP00000483388.1:p.Ala473Val | |
| ENST00000627000.1:c.*1320C>T | ENSP00000486914.1:n.*1320C>T | |
| ENST00000630240.1:n.1352C>T | ||
| NM_000744.6:c.1631C>T | NP_000735.1:p.Ala544Val | |
| NM_001256573.1:c.1103C>T | NP_001243502.1:p.Ala368Val | |
| NR_046317.1:n.1887C>T | ||
| XM_011528524.1:c.1418C>T | XP_011526826.1:p.Ala473Val | |
| XM_017027625.2:c.1103C>T | XP_016883114.1:p.Ala368Val | |
| XM_024451822.1:c.1103C>T | XP_024307590.1:p.Ala368Val | |
| NM_001256573.2:c.1103C>T | NP_001243502.1:p.Ala368Val | |
| NR_046317.2:n.1840C>T | ||
| NM_000744.7:c.1631C>T MANE Select | NP_000735.1:p.Ala544Val |