Linked Data
ClinVar Variation Id:
130051
dbSNP Id:
rs744389
ExAC:
19:40904602 G / A
gnomAD v2:
19-40904602-G-A
gnomAD v3:
19-40398695-G-A
gnomAD v4:
19-40398695-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40398695G>A , CM000681.2:g.40398695G>A | GRCh38 |
| NC_000019.9:g.40904602G>A , CM000681.1:g.40904602G>A | GRCh37 |
| NC_000019.8:g.45596442G>A | NCBI36 |
| NG_007979.1:g.19670C>T , LRG_265:g.19670C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.306C>T MANE Select | ENSP00000326018.6:p.Thr102= | |
| ENST00000673881.1:c.-112C>T | ENSP00000501070.1:n.-112C>T | |
| ENST00000674005.2:c.591C>T | ENSP00000501261.1:p.Thr197= | |
| ENST00000674642.1:n.223C>T | ||
| ENST00000674773.1:c.-36-725C>T | ENSP00000502579.1:n.-36-725C>T | |
| ENST00000674978.1:n.353C>T | ||
| ENST00000675300.1:c.172C>T | ENSP00000502008.1:p.Arg58Trp | |
| ENST00000675517.1:c.122C>T | ||
| ENST00000676076.1:c.122C>T | ||
| ENST00000676260.1:c.122C>T | ||
| ENST00000676316.1:c.122C>T | ||
| ENST00000291825.11:c.306C>T | ENSP00000291825.6:p.Thr102= | |
| ENST00000324001.7:c.306C>T | ENSP00000326018.6:p.Thr102= | |
| NM_020956.2:c.306C>T , LRG_265t1:c.306C>T | NP_066007.1:p.Thr102= | |
| NM_181882.2:c.306C>T , LRG_265t2:c.306C>T | NP_870998.2:p.Thr102= | |
| XM_011527171.1:c.306C>T | XP_011525473.1:p.Thr102= | |
| XM_011527171.2:c.306C>T | XP_011525473.1:p.Thr102= | |
| XM_017027046.1:c.204C>T | XP_016882535.1:p.Thr68= | |
| XM_017027047.1:c.204C>T | XP_016882536.1:p.Thr68= | |
| NM_181882.3:c.306C>T MANE Select | NP_870998.2:p.Thr102= |