Linked Data
ClinVar Variation Id:
1699654
dbSNP Id:
rs1352017376
gnomAD v2:
20-61982252-C-T
gnomAD v4:
20-63350900-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350900C>T , CM000682.2:g.63350900C>T | GRCh38 |
| NC_000020.10:g.61982252C>T , CM000682.1:g.61982252C>T | GRCh37 |
| NC_000020.9:g.61452696C>T | NCBI36 |
| NG_011931.1:g.15444G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.511G>A MANE Select | ENSP00000359285.4:p.Asp171Asn | |
| ENST00000370263.8:c.511G>A | ENSP00000359285.4:p.Asp171Asn | |
| ENST00000463705.5:n.1159G>A | ||
| ENST00000467563.3:n.581G>A | ||
| ENST00000498043.6:c.535G>A | ||
| ENST00000615287.4:c.298G>A | ENSP00000483388.1:p.Asp100Asn | |
| ENST00000627000.1:c.*200G>A | ENSP00000486914.1:n.*200G>A | |
| ENST00000630240.1:n.232G>A | ||
| NM_000744.6:c.511G>A | NP_000735.1:p.Asp171Asn | |
| NM_001256573.1:c.-18G>A | NP_001243502.1:n.-18G>A | |
| NR_046317.1:n.767G>A | ||
| XM_011528524.1:c.298G>A | XP_011526826.1:p.Asp100Asn | |
| XM_017027625.2:c.-18G>A | XP_016883114.1:n.-18G>A | |
| XM_024451822.1:c.-18G>A | XP_024307590.1:n.-18G>A | |
| NM_001256573.2:c.-18G>A | NP_001243502.1:n.-18G>A | |
| NR_046317.2:n.720G>A | ||
| NM_000744.7:c.511G>A MANE Select | NP_000735.1:p.Asp171Asn |