Linked Data
dbSNP Id:
rs200340848
ExAC:
21:45876916 A / G
gnomAD v2:
21-45876916-A-G
gnomAD v3:
21-44457033-A-G
gnomAD v4:
21-44457033-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44457033A>G , CM000683.2:g.44457033A>G | GRCh38 |
| NC_000021.8:g.45876916A>G , CM000683.1:g.45876916A>G | GRCh37 |
| NC_000021.7:g.44701344A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.389A>G MANE Select | ENSP00000291592.4:p.Lys130Arg | |
| ENST00000291592.5:c.389A>G | ENSP00000291592.4:p.Lys130Arg | |
| NM_030891.4:c.389A>G | NP_112153.1:p.Lys130Arg | |
| NM_030891.5:c.389A>G | NP_112153.1:p.Lys130Arg | |
| NM_030891.6:c.389A>G MANE Select | NP_112153.1:p.Lys130Arg |