Linked Data
ClinVar Variation Id:
407128
ClinVar RCV Id:
RCV000468087
RCV000507266
RCV002429496
RCV002225618
RCV002275030
RCV004000763
RCV004551519
dbSNP Id:
rs755348996
ExAC:
9:130605373 C / T
gnomAD v2:
9-130605373-C-T
gnomAD v4:
9-127843094-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127843094C>T , CM000671.2:g.127843094C>T | GRCh38 |
| NC_000009.11:g.130605373C>T , CM000671.1:g.130605373C>T | GRCh37 |
| NC_000009.10:g.129645194C>T | NCBI36 |
| NG_009551.1:g.16675G>A , LRG_589:g.16675G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.-328G>A | ENSP00000479015.1:n.-328G>A | |
| ENST00000373203.9:c.219G>A MANE Select | ENSP00000362299.4:p.Thr73= | |
| ENST00000344849.4:c.219G>A | ENSP00000341917.3:p.Thr73= | |
| ENST00000373203.8:c.219G>A | ENSP00000362299.4:p.Thr73= | |
| ENST00000480266.5:c.-328G>A | ENSP00000479015.1:n.-328G>A | |
| NM_000118.3:c.219G>A , LRG_589t1:c.219G>A | NP_000109.1:p.Thr73= | |
| NM_001114753.2:c.219G>A , LRG_589t2:c.219G>A | NP_001108225.1:p.Thr73= | |
| NM_001278138.1:c.-328G>A | NP_001265067.1:n.-328G>A | |
| NM_001114753.3:c.219G>A MANE Select | NP_001108225.1:p.Thr73= | |
| NM_001278138.2:c.-328G>A | NP_001265067.1:n.-328G>A |