Linked Data
dbSNP Id:
rs748781010
ExAC:
17:39023212 G / C
gnomAD v2:
17-39023212-G-C
gnomAD v4:
17-40866960-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40866960G>C , CM000679.2:g.40866960G>C | GRCh38 |
| NC_000017.10:g.39023212G>C , CM000679.1:g.39023212G>C | GRCh37 |
| NC_000017.9:g.36276738G>C | NCBI36 |
| NG_008077.1:g.5251C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.227C>G MANE Select | ENSP00000251643.4:p.Ser76Cys | |
| ENST00000647902.1:c.211+16C>G | ENSP00000497770.1:n.211+16C>G | |
| ENST00000251643.4:c.227C>G | ENSP00000251643.4:p.Ser76Cys | |
| NM_000223.3:c.227C>G | NP_000214.1:p.Ser76Cys | |
| XR_934754.1:n.1500+16100G>C | ||
| XR_934754.2:n.2008+16100G>C | ||
| NM_000223.4:c.227C>G MANE Select | NP_000214.1:p.Ser76Cys |