Linked Data
dbSNP Id:
rs765287252
ExAC:
1:94463469 T / C
gnomAD v2:
1-94463469-T-C
gnomAD v4:
1-93997913-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93997913T>C , CM000663.2:g.93997913T>C | GRCh38 |
| NC_000001.10:g.94463469T>C , CM000663.1:g.94463469T>C | GRCh37 |
| NC_000001.9:g.94236057T>C | NCBI36 |
| NG_009073.1:g.128237A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6677A>G MANE Select | ENSP00000359245.3:p.Lys2226Arg | |
| ENST00000370225.3:c.6677A>G | ENSP00000359245.3:p.Lys2226Arg | |
| ENST00000536513.5:c.3053A>G | ENSP00000439707.2:p.Lys1018Arg | |
| NM_000350.2:c.6677A>G | NP_000341.2:p.Lys2226Arg | |
| NM_000350.3:c.6677A>G MANE Select | NP_000341.2:p.Lys2226Arg |