Linked Data
ClinVar Variation Id:
1448647
ClinVar RCV Id:
RCV002002298
dbSNP Id:
rs11551914
gnomAD v2:
19-1401358-G-A
gnomAD v3:
19-1401359-G-A
gnomAD v4:
19-1401359-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401359G>A , CM000681.2:g.1401359G>A | GRCh38 |
| NC_000019.9:g.1401358G>A , CM000681.1:g.1401358G>A | GRCh37 |
| NC_000019.8:g.1352358G>A | NCBI36 |
| NG_009785.1:g.5195C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.118C>T MANE Select | ENSP00000252288.1:p.Pro40Ser | |
| ENST00000447102.8:c.118C>T | ENSP00000403536.2:p.Pro40Ser | |
| ENST00000640762.1:c.112+6C>T | ENSP00000492031.1:n.112+6C>T | |
| ENST00000252288.6:c.118C>T | ENSP00000252288.1:p.Pro40Ser | |
| ENST00000447102.7:c.118C>T | ENSP00000403536.2:p.Pro40Ser | |
| NM_000156.5:c.118C>T | NP_000147.1:p.Pro40Ser | |
| NM_138924.2:c.118C>T | NP_620279.1:p.Pro40Ser | |
| NM_000156.6:c.118C>T MANE Select | NP_000147.1:p.Pro40Ser | |
| NM_138924.3:c.118C>T | NP_620279.1:p.Pro40Ser |