Linked Data
ClinVar Variation Id:
2053122
dbSNP Id:
rs200346177
ExAC:
15:91354610 T / C
gnomAD v2:
15-91354610-T-C
gnomAD v3:
15-90811380-T-C
gnomAD v4:
15-90811380-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90811380T>C , CM000677.2:g.90811380T>C | GRCh38 |
| NC_000015.9:g.91354610T>C , CM000677.1:g.91354610T>C | GRCh37 |
| NC_000015.8:g.89155614T>C | NCBI36 |
| NG_007272.1:g.99009T>C , LRG_20:g.99009T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.4050T>C MANE Select | ENSP00000347232.3:p.Thr1350= | |
| ENST00000560559.2:n.2623T>C | ||
| ENST00000648453.1:c.4050T>C | ENSP00000497646.1:p.Thr1350= | |
| ENST00000680772.1:c.4050T>C | ENSP00000506117.1:p.Thr1350= | |
| ENST00000681142.1:c.4050T>C | ENSP00000506682.1:p.Thr1350= | |
| ENST00000355112.7:c.4050T>C | ENSP00000347232.3:p.Thr1350= | |
| ENST00000558825.5:n.1397T>C | ||
| ENST00000559724.5:c.*2974T>C | ENSP00000453359.1:n.*2974T>C | |
| ENST00000560509.5:c.3657T>C | ENSP00000454158.1:p.Thr1219= | |
| ENST00000560821.1:n.470T>C | ||
| NM_000057.3:c.4050T>C | NP_000048.1:p.Thr1350= | |
| NM_001287246.1:c.4050T>C | NP_001274175.1:p.Thr1350= | |
| NM_001287247.1:c.3657T>C | NP_001274176.1:p.Thr1219= | |
| NM_001287248.1:c.2925T>C | NP_001274177.1:p.Thr975= | |
| XM_006720632.2:c.2088T>C | XP_006720695.1:p.Thr696= | |
| XM_011521881.1:c.2736T>C | XP_011520183.1:p.Thr912= | |
| XM_011521881.2:c.2736T>C | XP_011520183.1:p.Thr912= | |
| NM_000057.4:c.4050T>C MANE Select | NP_000048.1:p.Thr1350= | |
| NM_001287246.2:c.4050T>C | NP_001274175.1:p.Thr1350= | |
| NM_001287247.2:c.3657T>C | NP_001274176.1:p.Thr1219= | |
| NM_001287248.2:c.2925T>C | NP_001274177.1:p.Thr975= |