Linked Data
dbSNP Id:
rs959344424
gnomAD v2:
11-17634299-A-G
gnomAD v3:
11-17612752-A-G
gnomAD v4:
11-17612752-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17612752A>G , CM000673.2:g.17612752A>G | GRCh38 |
| NC_000011.9:g.17634299A>G , CM000673.1:g.17634299A>G | GRCh37 |
| NC_000011.8:g.17590875A>G | NCBI36 |
| NG_033191.1:g.70380A>G | |
| NG_033191.2:g.70380A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.6461A>G | ENSP00000382323.2:p.Lys2154Arg | |
| ENST00000399397.6:c.6425A>G MANE Select | ENSP00000382329.2:p.Lys2142Arg | |
| ENST00000342528.2:c.3479A>G | ENSP00000341666.2:p.Lys1160Arg | |
| ENST00000399391.6:c.6461A>G | ENSP00000382323.2:p.Lys2154Arg | |
| ENST00000399397.5:c.6425A>G | ENSP00000382329.2:p.Lys2142Arg | |
| NM_001277269.1:c.6461A>G | NP_001264198.1:p.Lys2154Arg | |
| NM_001292063.1:c.6425A>G | NP_001278992.1:p.Lys2142Arg | |
| NM_001277269.2:c.6461A>G | NP_001264198.1:p.Lys2154Arg | |
| NM_001292063.2:c.6425A>G MANE Select | NP_001278992.1:p.Lys2142Arg |