Linked Data
dbSNP Id:
rs766699655
ExAC:
17:39023380 C / T
gnomAD v2:
17-39023380-C-T
gnomAD v3:
17-40867128-C-T
gnomAD v4:
17-40867128-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40867128C>T , CM000679.2:g.40867128C>T | GRCh38 |
| NC_000017.10:g.39023380C>T , CM000679.1:g.39023380C>T | GRCh37 |
| NC_000017.9:g.36276906C>T | NCBI36 |
| NG_008077.1:g.5083G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.59G>A MANE Select | ENSP00000251643.4:p.Arg20Gln | |
| ENST00000647902.1:c.59G>A | ENSP00000497770.1:p.Arg20Gln | |
| ENST00000251643.4:c.59G>A | ENSP00000251643.4:p.Arg20Gln | |
| NM_000223.3:c.59G>A | NP_000214.1:p.Arg20Gln | |
| XR_934754.1:n.1500+16268C>T | ||
| XR_934754.2:n.2008+16268C>T | ||
| NM_000223.4:c.59G>A MANE Select | NP_000214.1:p.Arg20Gln |