Linked Data
dbSNP Id:
rs770795118
ExAC:
17:39023255 T / C
gnomAD v2:
17-39023255-T-C
gnomAD v4:
17-40867003-T-C
MyVariant Identifiers:
chr17:g.39023255T>C (hg19)
chr17:g.39023255_39023256delinsCG (hg19)
chr17:g.40867003T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40867003T>C , CM000679.2:g.40867003T>C | GRCh38 |
| NC_000017.10:g.39023255T>C , CM000679.1:g.39023255T>C | GRCh37 |
| NC_000017.9:g.36276781T>C | NCBI36 |
| NG_008077.1:g.5208A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.184A>G MANE Select | ENSP00000251643.4:p.Met62Val | |
| ENST00000647902.1:c.184A>G | ENSP00000497770.1:p.Met62Val | |
| ENST00000251643.4:c.184A>G | ENSP00000251643.4:p.Met62Val | |
| NM_000223.3:c.184A>G | NP_000214.1:p.Met62Val | |
| XR_934754.1:n.1500+16143T>C | ||
| XR_934754.2:n.2008+16143T>C | ||
| NM_000223.4:c.184A>G MANE Select | NP_000214.1:p.Met62Val |