Linked Data
dbSNP Id:
rs765618473
ExAC:
17:39023401 C / G
gnomAD v2:
17-39023401-C-G
gnomAD v3:
17-40867149-C-G
gnomAD v4:
17-40867149-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40867149C>G , CM000679.2:g.40867149C>G | GRCh38 |
| NC_000017.10:g.39023401C>G , CM000679.1:g.39023401C>G | GRCh37 |
| NC_000017.9:g.36276927C>G | NCBI36 |
| NG_008077.1:g.5062G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251643.5:c.38G>C MANE Select | ENSP00000251643.4:p.Arg13Pro | |
| ENST00000647902.1:c.38G>C | ENSP00000497770.1:p.Arg13Pro | |
| ENST00000251643.4:c.38G>C | ENSP00000251643.4:p.Arg13Pro | |
| NM_000223.3:c.38G>C | NP_000214.1:p.Arg13Pro | |
| XR_934754.1:n.1500+16289C>G | ||
| XR_934754.2:n.2008+16289C>G | ||
| NM_000223.4:c.38G>C MANE Select | NP_000214.1:p.Arg13Pro |