Linked Data
dbSNP Id:
rs201327237
ExAC:
22:27003902 G / C
gnomAD v2:
22-27003902-G-C
gnomAD v4:
22-26607938-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26607938G>C , CM000684.2:g.26607938G>C | GRCh38 |
| NC_000022.10:g.27003902G>C , CM000684.1:g.27003902G>C | GRCh37 |
| NC_000022.9:g.25333902G>C | NCBI36 |
| NG_009826.1:g.15090C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647569.1:n.195C>G | ||
| ENST00000647684.1:c.383C>G MANE Select | ENSP00000497249.1:p.Ser128Trp | |
| ENST00000215939.2:c.383C>G | ENSP00000215939.2:p.Ser128Trp | |
| NM_001887.3:c.383C>G | NP_001878.1:p.Ser128Trp | |
| XM_011529899.1:c.383C>G | XP_011528201.1:p.Ser128Trp | |
| NM_001887.4:c.383C>G MANE Select | NP_001878.1:p.Ser128Trp | |
| XM_011529899.3:c.383C>G | XP_011528201.1:p.Ser128Trp |