Linked Data
ClinVar Variation Id:
205017
dbSNP Id:
rs200795334
ExAC:
20:61981232 C / A
gnomAD v2:
20-61981232-C-A
gnomAD v3:
20-63349880-C-A
gnomAD v4:
20-63349880-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63349880C>A , CM000682.2:g.63349880C>A | GRCh38 |
| NC_000020.10:g.61981232C>A , CM000682.1:g.61981232C>A | GRCh37 |
| NC_000020.9:g.61451676C>A | NCBI36 |
| NG_011931.1:g.16464G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.1531G>T MANE Select | ENSP00000359285.4:p.Ala511Ser | |
| ENST00000370263.8:c.1531G>T | ENSP00000359285.4:p.Ala511Ser | |
| ENST00000463705.5:n.2179G>T | ||
| ENST00000467563.3:n.1601G>T | ||
| ENST00000498043.6:c.1555G>T | ||
| ENST00000615287.4:c.1318G>T | ENSP00000483388.1:p.Ala440Ser | |
| ENST00000627000.1:c.*1220G>T | ENSP00000486914.1:n.*1220G>T | |
| ENST00000630240.1:n.1252G>T | ||
| NM_000744.6:c.1531G>T | NP_000735.1:p.Ala511Ser | |
| NM_001256573.1:c.1003G>T | NP_001243502.1:p.Ala335Ser | |
| NR_046317.1:n.1787G>T | ||
| XM_011528524.1:c.1318G>T | XP_011526826.1:p.Ala440Ser | |
| XM_017027625.2:c.1003G>T | XP_016883114.1:p.Ala335Ser | |
| XM_024451822.1:c.1003G>T | XP_024307590.1:p.Ala335Ser | |
| NM_001256573.2:c.1003G>T | NP_001243502.1:p.Ala335Ser | |
| NR_046317.2:n.1740G>T | ||
| NM_000744.7:c.1531G>T MANE Select | NP_000735.1:p.Ala511Ser |