Linked Data
ClinVar Variation Id:
475283
ClinVar RCV Id:
RCV000537631
dbSNP Id:
rs143888043
ExAC:
1:949422 G / A
gnomAD v2:
1-949422-G-A
gnomAD v3:
1-1014042-G-A
gnomAD v4:
1-1014042-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014042G>A , CM000663.2:g.1014042G>A | GRCh38 |
| NC_000001.10:g.949422G>A , CM000663.1:g.949422G>A | GRCh37 |
| NC_000001.9:g.939285G>A | NCBI36 |
| NG_033033.1:g.5576G>A | |
| NG_033033.2:g.17905G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.38G>A | ENSP00000485643.1:p.Ser13Asn | |
| ENST00000649529.1:c.62G>A MANE Select | ENSP00000496832.1:p.Ser21Asn | |
| ENST00000379389.4:c.62G>A | ENSP00000368699.4:p.Ser21Asn | |
| ENST00000624652.1:c.38G>A | ENSP00000485313.1:p.Ser13Asn | |
| ENST00000624697.3:c.38G>A | ENSP00000485643.1:p.Ser13Asn | |
| NM_005101.3:c.62G>A | NP_005092.1:p.Ser21Asn | |
| NM_005101.4:c.62G>A MANE Select | NP_005092.1:p.Ser21Asn |