Linked Data
ClinVar Variation Id:
776681
ClinVar RCV Id:
RCV000957034
dbSNP Id:
rs149863373
ExAC:
11:129817175 T / C
gnomAD v2:
11-129817175-T-C
gnomAD v3:
11-129947280-T-C
gnomAD v4:
11-129947280-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.129947280T>C , CM000673.2:g.129947280T>C | GRCh38 |
| NC_000011.9:g.129817175T>C , CM000673.1:g.129817175T>C | GRCh37 |
| NC_000011.8:g.129322385T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360871.8:c.385A>G MANE Select | ENSP00000354118.3:p.Arg129Gly | |
| ENST00000304538.10:c.127A>G | ENSP00000302669.6:p.Arg43Gly | |
| ENST00000358825.9:c.385A>G | ENSP00000351686.5:p.Arg129Gly | |
| ENST00000360871.7:c.385A>G | ENSP00000354118.3:p.Arg129Gly | |
| ENST00000423662.6:c.127A>G | ENSP00000398431.2:p.Arg43Gly | |
| ENST00000526082.5:c.127A>G | ENSP00000432237.1:p.Arg43Gly | |
| ENST00000527581.5:c.325A>G | ENSP00000432093.1:p.Arg109Gly | |
| ENST00000528746.5:c.307A>G | ENSP00000431262.1:p.Arg103Gly | |
| NM_020228.2:c.385A>G | NP_064613.2:p.Arg129Gly | |
| NM_199437.1:c.385A>G | NP_955469.1:p.Arg129Gly | |
| NM_199438.1:c.127A>G | NP_955470.1:p.Arg43Gly | |
| NM_199439.1:c.127A>G | NP_955471.1:p.Arg43Gly | |
| XM_011542912.1:c.385A>G | XP_011541214.1:p.Arg129Gly | |
| XM_011542913.1:c.385A>G | XP_011541215.1:p.Arg129Gly | |
| XM_011542914.1:c.127A>G | XP_011541216.1:p.Arg43Gly | |
| XM_011542915.1:c.127A>G | XP_011541217.1:p.Arg43Gly | |
| XM_011542916.1:c.127A>G | XP_011541218.1:p.Arg43Gly | |
| XM_011542912.2:c.385A>G | XP_011541214.1:p.Arg129Gly | |
| XM_017018023.1:c.127A>G | XP_016873512.1:p.Arg43Gly | |
| NM_001367890.1:c.385A>G | NP_001354819.1:p.Arg129Gly | |
| NM_001367891.1:c.325A>G | NP_001354820.1:p.Arg109Gly | |
| NM_001367892.1:c.385A>G | NP_001354821.1:p.Arg129Gly | |
| NM_001367893.1:c.385A>G | NP_001354822.1:p.Arg129Gly | |
| NM_001367894.1:c.385A>G | NP_001354823.1:p.Arg129Gly | |
| NM_001367895.1:c.-465A>G | NP_001354824.1:n.-465A>G | |
| NM_001367896.1:c.-465A>G | NP_001354825.1:n.-465A>G | |
| NM_001367897.1:c.-465A>G | NP_001354826.1:n.-465A>G | |
| NM_001367898.1:c.127A>G | NP_001354827.1:p.Arg43Gly | |
| NM_001367899.1:c.127A>G | NP_001354828.1:p.Arg43Gly | |
| NM_020228.3:c.385A>G | NP_064613.2:p.Arg129Gly | |
| NM_199437.2:c.385A>G MANE Select | NP_955469.1:p.Arg129Gly | |
| NM_199438.2:c.127A>G | NP_955470.1:p.Arg43Gly | |
| NM_199439.2:c.127A>G | NP_955471.1:p.Arg43Gly |