Linked Data
ClinVar Variation Id:
1209683
dbSNP Id:
rs438034
ExAC:
1:214830617 A / G
gnomAD v2:
1-214830617-A-G
gnomAD v3:
1-214657274-A-G
gnomAD v4:
1-214657274-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.214657274A>G , CM000663.2:g.214657274A>G | GRCh38 |
| NC_000001.10:g.214830617A>G , CM000663.1:g.214830617A>G | GRCh37 |
| NC_000001.9:g.212897240A>G | NCBI36 |
| NG_046787.1:g.59096A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706765.1:c.8650A>G | ENSP00000516538.1:p.Arg2884Gly | |
| ENST00000706766.1:n.926A>G | ||
| ENST00000366955.8:c.8827A>G MANE Select | ENSP00000355922.3:p.Arg2943Gly | |
| ENST00000366955.7:c.8827A>G | ENSP00000355922.3:p.Arg2943Gly | |
| ENST00000469862.1:n.598A>G | ||
| NM_016343.3:c.8827A>G | NP_057427.3:p.Arg2943Gly | |
| XM_011509082.1:c.8650A>G | XP_011507384.1:p.Arg2884Gly | |
| XM_011509083.1:c.7762A>G | XP_011507385.1:p.Arg2588Gly | |
| XM_011509082.3:c.8650A>G | XP_011507384.1:p.Arg2884Gly | |
| XM_017000086.2:c.8827A>G | XP_016855575.1:p.Arg2943Gly | |
| NM_016343.4:c.8827A>G MANE Select | NP_057427.3:p.Arg2943Gly |