Linked Data
gnomAD v4:
17-40866976-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40866976C>G , CM000679.2:g.40866976C>G | GRCh38 |
| NC_000017.10:g.39023228C>G , CM000679.1:g.39023228C>G | GRCh37 |
| NC_000017.9:g.36276754C>G | NCBI36 |
| NG_008077.1:g.5235G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.211G>C MANE Select | ENSP00000251643.4:p.Gly71Arg | |
| ENST00000647902.1:c.211G>C | ENSP00000497770.1:p.Gly71Arg | |
| ENST00000251643.4:c.211G>C | ENSP00000251643.4:p.Gly71Arg | |
| NM_000223.3:c.211G>C | NP_000214.1:p.Gly71Arg | |
| XR_934754.1:n.1500+16116C>G | ||
| XR_934754.2:n.2008+16116C>G | ||
| NM_000223.4:c.211G>C MANE Select | NP_000214.1:p.Gly71Arg |