Linked Data
ClinVar Variation Id:
1112506
ClinVar RCV Id:
RCV001439540
dbSNP Id:
rs115585638
ExAC:
11:17408757 C / T
gnomAD v2:
11-17408757-C-T
gnomAD v3:
11-17387210-C-T
gnomAD v4:
11-17387210-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387210C>T , CM000673.2:g.17387210C>T | GRCh38 |
| NC_000011.9:g.17408757C>T , CM000673.1:g.17408757C>T | GRCh37 |
| NC_000011.8:g.17365333C>T | NCBI36 |
| NG_012446.1:g.6450G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682350.1:c.621G>A | ENSP00000508090.1:p.Thr207= | |
| ENST00000682764.1:c.621G>A | ENSP00000506780.1:p.Thr207= | |
| ENST00000339994.5:c.882G>A MANE Select | ENSP00000345708.4:p.Thr294= | |
| ENST00000339994.4:c.882G>A | ENSP00000345708.4:p.Thr294= | |
| ENST00000528731.1:c.621G>A | ENSP00000434755.1:p.Thr207= | |
| NM_000525.3:c.882G>A | NP_000516.3:p.Thr294= | |
| NM_001166290.1:c.621G>A | NP_001159762.1:p.Thr207= | |
| XM_006718226.2:c.621G>A | XP_006718289.1:p.Thr207= | |
| XR_930867.1:n.1040G>A | ||
| XM_006718226.3:c.621G>A | XP_006718289.1:p.Thr207= | |
| XM_017017680.1:c.621G>A | XP_016873169.1:p.Thr207= | |
| NM_001166290.2:c.621G>A | NP_001159762.1:p.Thr207= | |
| NM_001377296.1:c.621G>A | NP_001364225.1:p.Thr207= | |
| NM_001377297.1:c.621G>A | NP_001364226.1:p.Thr207= | |
| NM_000525.4:c.882G>A MANE Select | NP_000516.3:p.Thr294= |