Linked Data
ClinVar Variation Id:
1349453
ClinVar RCV Id:
RCV002051073
dbSNP Id:
rs2144753475
gnomAD v4:
17-74919952-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919952G>A , CM000679.2:g.74919952G>A | GRCh38 |
| NC_000017.10:g.72916047G>A , CM000679.1:g.72916047G>A | GRCh37 |
| NC_000017.9:g.70427642G>A | NCBI36 |
| NG_007882.1:g.8305C>T | |
| NG_033062.1:g.678G>A | |
| NG_007882.2:g.8312C>T | |
| NG_033062.2:g.678G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.884C>T MANE Select | ENSP00000480279.1:p.Ser295Leu | |
| ENST00000579243.1:c.*483C>T | ENSP00000462568.1:n.*483C>T | |
| ENST00000614341.4:c.884C>T | ENSP00000480279.1:p.Ser295Leu | |
| NM_001282489.2:c.575C>T | NP_001269418.1:p.Ser192Leu | |
| NM_173477.4:c.884C>T | NP_775748.2:p.Ser295Leu | |
| XM_011524296.1:c.575C>T | XP_011522598.1:p.Ser192Leu | |
| XM_011524296.2:c.575C>T | XP_011522598.1:p.Ser192Leu | |
| NM_173477.5:c.884C>T MANE Select | NP_775748.2:p.Ser295Leu | |
| NM_001282489.3:c.575C>T | NP_001269418.1:p.Ser192Leu |