Linked Data
dbSNP Id:
rs752668368
ExAC:
14:91745647 G / C
gnomAD v2:
14-91745647-G-C
gnomAD v4:
14-91279303-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91279303G>C , CM000676.2:g.91279303G>C | GRCh38 |
| NC_000014.8:g.91745647G>C , CM000676.1:g.91745647G>C | GRCh37 |
| NC_000014.7:g.90815400G>C | NCBI36 |
| NG_033118.1:g.143542C>G | |
| NG_033118.2:g.143542C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.4703C>G MANE Select | ENSP00000374507.6:p.Ser1568Trp | |
| ENST00000331194.8:c.275C>G | ENSP00000330332.8:p.Ser92Trp | |
| ENST00000334448.5:n.515C>G | ||
| ENST00000389857.10:c.4703C>G | ENSP00000374507.6:p.Ser1568Trp | |
| ENST00000556726.5:c.931C>G | ||
| ENST00000557455.1:n.675C>G | ||
| NM_001080414.3:c.4703C>G | NP_001073883.2:p.Ser1568Trp | |
| XM_011536796.1:c.4595C>G | XP_011535098.1:p.Ser1532Trp | |
| XR_429316.2:n.4978C>G | ||
| XM_011536796.2:c.4595C>G | XP_011535098.1:p.Ser1532Trp | |
| XM_017021336.1:c.1784C>G | XP_016876825.1:p.Ser595Trp | |
| XR_429316.4:n.4976C>G | ||
| NM_001080414.4:c.4703C>G MANE Select | NP_001073883.2:p.Ser1568Trp |