Linked Data
ClinVar Variation Id:
386230
dbSNP Id:
rs142436391
ExAC:
19:40903814 C / T
gnomAD v2:
19-40903814-C-T
gnomAD v3:
19-40397907-C-T
gnomAD v4:
19-40397907-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40397907C>T , CM000681.2:g.40397907C>T | GRCh38 |
| NC_000019.9:g.40903814C>T , CM000681.1:g.40903814C>T | GRCh37 |
| NC_000019.8:g.45595654C>T | NCBI36 |
| NG_007979.1:g.20458G>A , LRG_265:g.20458G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.445G>A MANE Select | ENSP00000326018.6:p.Ala149Thr | |
| ENST00000673881.1:c.28G>A | ENSP00000501070.1:p.Ala10Thr | |
| ENST00000674005.2:c.730G>A | ENSP00000501261.1:p.Ala244Thr | |
| ENST00000674773.1:c.28G>A | ENSP00000502579.1:p.Ala10Thr | |
| ENST00000675517.1:c.320G>A | ||
| ENST00000676076.1:c.306G>A | ||
| ENST00000676260.1:c.407G>A | ||
| ENST00000676316.1:c.332G>A | ||
| ENST00000291825.11:c.*650G>A | ENSP00000291825.6:n.*650G>A | |
| ENST00000324001.7:c.445G>A | ENSP00000326018.6:p.Ala149Thr | |
| NM_020956.2:c.*650G>A , LRG_265t1:c.*650G>A | NP_066007.1:n.*650G>A | |
| NM_181882.2:c.445G>A , LRG_265t2:c.445G>A | NP_870998.2:p.Ala149Thr | |
| XM_011527171.1:c.445G>A | XP_011525473.1:p.Ala149Thr | |
| XM_011527171.2:c.445G>A | XP_011525473.1:p.Ala149Thr | |
| XM_017027046.1:c.343G>A | XP_016882535.1:p.Ala115Thr | |
| XM_017027047.1:c.343G>A | XP_016882536.1:p.Ala115Thr | |
| NM_181882.3:c.445G>A MANE Select | NP_870998.2:p.Ala149Thr |