Linked Data
dbSNP Id:
rs745503980
gnomAD v2:
19-6697473-G-C
gnomAD v3:
19-6697462-G-C
gnomAD v4:
19-6697462-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697462G>C , CM000681.2:g.6697462G>C | GRCh38 |
| NC_000019.9:g.6697473G>C , CM000681.1:g.6697473G>C | GRCh37 |
| NC_000019.8:g.6648473G>C | NCBI36 |
| NG_009557.1:g.28190C>G , LRG_27:g.28190C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.1026C>G | ||
| ENST00000695652.1:c.2555C>G | ENSP00000512083.1:p.Ser852Trp | |
| ENST00000695653.1:c.587C>G | ENSP00000512084.1:p.Ser196Trp | |
| ENST00000695654.1:c.1802C>G | ENSP00000512085.1:p.Ser601Trp | |
| ENST00000695655.1:c.1619C>G | ENSP00000512086.1:n.1619C>G | |
| ENST00000695692.1:n.2042C>G | ||
| ENST00000245907.11:c.2678C>G MANE Select | ENSP00000245907.4:p.Ser893Trp | |
| ENST00000245907.10:c.2678C>G | ENSP00000245907.4:p.Ser893Trp | |
| ENST00000594005.1:n.254C>G | ||
| NM_000064.3:c.2678C>G | NP_000055.2:p.Ser893Trp | |
| NM_000064.4:c.2678C>G MANE Select | NP_000055.2:p.Ser893Trp |