Linked Data
ClinVar Variation Id:
553440
ClinVar RCV Id:
RCV000668892
dbSNP Id:
rs1555191079
gnomAD v4:
11-119027000-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027000T>C , CM000673.2:g.119027000T>C | GRCh38 |
| NC_000011.9:g.118897710T>C , CM000673.1:g.118897710T>C | GRCh37 |
| NC_000011.8:g.118402920T>C | NCBI36 |
| NG_013331.1:g.8906A>G , LRG_187:g.8906A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.951A>G | ||
| ENST00000697845.1:n.875A>G | ||
| ENST00000697846.1:n.951A>G | ||
| ENST00000697847.1:n.951A>G | ||
| ENST00000697848.1:n.951A>G | ||
| ENST00000697849.1:n.1990A>G | ||
| ENST00000697850.1:n.951A>G | ||
| ENST00000697851.1:n.2311A>G | ||
| ENST00000638186.1:n.1025A>G | ||
| ENST00000638360.1:n.857A>G | ||
| ENST00000638925.1:n.958A>G | ||
| ENST00000650539.1:n.1127A>G | ||
| ENST00000330775.9:c.721A>G | ENSP00000476242.2:p.Thr241Ala | |
| ENST00000357590.9:c.721A>G | ENSP00000476176.2:p.Thr241Ala | |
| ENST00000524428.5:n.1043A>G | ||
| ENST00000525039.5:n.1145A>G | ||
| ENST00000525102.5:n.1479A>G | ||
| ENST00000525372.5:n.722A>G | ||
| ENST00000526275.5:n.1503A>G | ||
| ENST00000526626.6:n.684A>G | ||
| ENST00000527992.5:n.949A>G | ||
| ENST00000529510.5:n.495A>G | ||
| ENST00000530407.5:n.871A>G | ||
| ENST00000532085.1:n.3332A>G | ||
| ENST00000532888.6:n.1017A>G | ||
| ENST00000538950.5:c.502A>G | ENSP00000475991.2:p.Thr168Ala | |
| ENST00000545985.5:c.721A>G | ENSP00000475241.2:p.Thr241Ala | |
| NM_001164277.1:c.721A>G , LRG_187t1:c.721A>G | NP_001157749.1:p.Thr241Ala | |
| NM_001164278.1:c.721A>G | NP_001157750.1:p.Thr241Ala | |
| NM_001164279.1:c.502A>G | NP_001157751.1:p.Thr168Ala | |
| NM_001164280.1:c.721A>G | NP_001157752.1:p.Thr241Ala | |
| NM_001467.5:c.721A>G | NP_001458.1:p.Thr241Ala | |
| NM_001164278.2:c.721A>G | NP_001157750.1:p.Thr241Ala | |
| NM_001164279.2:c.502A>G | NP_001157751.1:p.Thr168Ala | |
| NM_001164280.2:c.721A>G | NP_001157752.1:p.Thr241Ala | |
| NM_001467.6:c.721A>G | NP_001458.1:p.Thr241Ala | |
| NM_001164277.2:c.721A>G MANE Select | NP_001157749.1:p.Thr241Ala |