Linked Data
ClinVar Variation Id:
44639
dbSNP Id:
rs148468207
ExAC:
11:110143285 T / C
gnomAD v2:
11-110143285-T-C
gnomAD v3:
11-110272560-T-C
gnomAD v4:
11-110272560-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.110272560T>C , CM000673.2:g.110272560T>C | GRCh38 |
| NC_000011.9:g.110143285T>C , CM000673.1:g.110143285T>C | GRCh37 |
| NC_000011.8:g.109648495T>C | NCBI36 |
| NG_023044.1:g.29153A>G | |
| NG_023044.2:g.29153A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645495.2:c.72A>G MANE Select | ENSP00000496503.2:p.Thr24= | |
| ENST00000645527.1:c.72A>G | ENSP00000496121.1:p.Thr24= | |
| ENST00000646663.1:c.72A>G | ENSP00000494693.1:p.Thr24= | |
| ENST00000647231.1:c.72A>G | ENSP00000496414.1:p.Thr24= | |
| ENST00000343115.8:c.72A>G | ENSP00000342830.4:p.Thr24= | |
| ENST00000405097.5:c.72A>G | ENSP00000384136.1:p.Thr24= | |
| ENST00000528498.5:c.72A>G | ENSP00000432112.1:p.Thr24= | |
| ENST00000528556.5:c.*60A>G | ENSP00000434881.1:n.*60A>G | |
| ENST00000528900.5:c.-83+7121A>G | ENSP00000433580.1:n.-83+7121A>G | |
| ENST00000530131.5:c.72A>G | ENSP00000432829.1:p.Thr24= | |
| ENST00000530301.5:c.72A>G | ENSP00000436277.1:p.Thr24= | |
| ENST00000530749.5:c.72A>G | ENSP00000437301.1:p.Thr24= | |
| ENST00000532118.5:c.39A>G | ENSP00000437140.1:p.Thr13= | |
| ENST00000533678.1:c.*60A>G | ENSP00000435930.1:n.*60A>G | |
| ENST00000533991.1:c.39A>G | ENSP00000432572.1:p.Thr13= | |
| ENST00000534683.1:c.-138+7153A>G | ENSP00000431560.1:n.-138+7153A>G | |
| ENST00000544551.5:c.35A>G | ENSP00000445826.1:p.Gln12Arg | |
| NM_001260492.1:c.72A>G | NP_001247421.1:p.Thr24= | |
| NM_001260493.1:c.72A>G | NP_001247422.1:p.Thr24= | |
| NM_001260494.1:c.35A>G | NP_001247423.1:p.Gln12Arg | |
| NM_001260495.1:c.-83+7121A>G | NP_001247424.1:n.-83+7121A>G | |
| NM_001260496.1:c.72A>G | NP_001247425.1:p.Thr24= | |
| NM_002906.3:c.72A>G | NP_002897.1:p.Thr24= | |
| NM_001260492.2:c.72A>G | NP_001247421.1:p.Thr24= | |
| NM_002906.4:c.72A>G MANE Select | NP_002897.1:p.Thr24= | |
| NM_001260493.2:c.72A>G | NP_001247422.1:p.Thr24= | |
| NM_001260494.2:c.35A>G | NP_001247423.1:p.Gln12Arg | |
| NM_001260495.2:c.-83+7121A>G | NP_001247424.1:n.-83+7121A>G | |
| NM_001260496.2:c.72A>G | NP_001247425.1:p.Thr24= |