Linked Data
MyVariant Identifiers:
chr17:g.39023226A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40866974A>G , CM000679.2:g.40866974A>G | GRCh38 |
| NC_000017.10:g.39023226A>G , CM000679.1:g.39023226A>G | GRCh37 |
| NC_000017.9:g.36276752A>G | NCBI36 |
| NG_008077.1:g.5237T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.213T>C MANE Select | ENSP00000251643.4:p.Gly71= | |
| ENST00000647902.1:c.211+2T>C | ENSP00000497770.1:n.211+2T>C | |
| ENST00000251643.4:c.213T>C | ENSP00000251643.4:p.Gly71= | |
| NM_000223.3:c.213T>C | NP_000214.1:p.Gly71= | |
| XR_934754.1:n.1500+16114A>G | ||
| XR_934754.2:n.2008+16114A>G | ||
| NM_000223.4:c.213T>C MANE Select | NP_000214.1:p.Gly71= |