Linked Data
ClinVar Variation Id:
1499570
ClinVar RCV Id:
RCV002010755
dbSNP Id:
rs769935106
ExAC:
18:21131664 A / T
gnomAD v2:
18-21131664-A-T
gnomAD v3:
18-23551700-A-T
gnomAD v4:
18-23551700-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23551700A>T , CM000680.2:g.23551700A>T | GRCh38 |
| NC_000018.9:g.21131664A>T , CM000680.1:g.21131664A>T | GRCh37 |
| NC_000018.8:g.19385662A>T | NCBI36 |
| NG_012795.1:g.39918T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.1581T>A MANE Select | ENSP00000269228.4:p.Ser527Arg | |
| ENST00000269228.9:c.1581T>A | ENSP00000269228.4:p.Ser527Arg | |
| ENST00000540608.5:n.1495T>A | ||
| ENST00000590301.1:n.256T>A | ||
| ENST00000591051.1:c.835+3058T>A | ||
| NM_000271.4:c.1581T>A | NP_000262.2:p.Ser527Arg | |
| XM_005258277.1:c.1632T>A | XP_005258334.1:p.Ser544Arg | |
| XM_005258278.3:c.1632T>A | XP_005258335.1:p.Ser544Arg | |
| XM_005258279.1:c.1581T>A | XP_005258336.1:p.Ser527Arg | |
| XM_006722479.2:c.1632T>A | XP_006722542.1:p.Ser544Arg | |
| XM_011526015.1:c.1167T>A | XP_011524317.1:p.Ser389Arg | |
| XM_005258278.5:c.1632T>A | XP_005258335.1:p.Ser544Arg | |
| XM_005258279.2:c.1581T>A | XP_005258336.1:p.Ser527Arg | |
| XM_006722479.3:c.1632T>A | XP_006722542.1:p.Ser544Arg | |
| XM_017025784.1:c.1632T>A | XP_016881273.1:p.Ser544Arg | |
| XM_017025785.1:c.1632T>A | XP_016881274.1:p.Ser544Arg | |
| XM_017025786.1:c.1581T>A | XP_016881275.1:p.Ser527Arg | |
| XM_017025787.1:c.1581T>A | XP_016881276.1:p.Ser527Arg | |
| NM_000271.5:c.1581T>A MANE Select | NP_000262.2:p.Ser527Arg |