Linked Data
dbSNP Id:
rs750636202
ExAC:
11:116693378 A / C
gnomAD v2:
11-116693378-A-C
gnomAD v4:
11-116822662-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116822662A>C , CM000673.2:g.116822662A>C | GRCh38 |
| NC_000011.9:g.116693378A>C , CM000673.1:g.116693378A>C | GRCh37 |
| NC_000011.8:g.116198588A>C | NCBI36 |
| NG_012044.1:g.5634T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357780.5:c.173T>G MANE Select | ENSP00000350425.3:p.Leu58Arg | |
| ENST00000357780.4:c.173T>G | ENSP00000350425.3:p.Leu58Arg | |
| NM_000482.3:c.173T>G | NP_000473.2:p.Leu58Arg | |
| NM_000482.4:c.173T>G MANE Select | NP_000473.2:p.Leu58Arg |