Linked Data
ClinVar Variation Id:
92789
ClinVar RCV Id:
RCV000078576
RCV000288691
RCV000588719
RCV001543848
RCV001276625
RCV001409911
RCV001543847
dbSNP Id:
rs9462858
ExAC:
6:42946490 C / A
gnomAD v2:
6-42946490-C-A
gnomAD v3:
6-42978752-C-A
gnomAD v4:
6-42978752-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42978752C>A , CM000668.2:g.42978752C>A | GRCh38 |
| NC_000006.11:g.42946490C>A , CM000668.1:g.42946490C>A | GRCh37 |
| NC_000006.10:g.43054468C>A | NCBI36 |
| NG_008370.1:g.5492G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.399G>T MANE Select | ENSP00000303511.8:p.Val133= | |
| ENST00000244546.4:c.399G>T | ENSP00000244546.4:p.Val133= | |
| ENST00000304611.12:c.399G>T | ENSP00000303511.8:p.Val133= | |
| NM_000287.3:c.399G>T | NP_000278.3:p.Val133= | |
| NM_001316313.1:c.399G>T | NP_001303242.1:p.Val133= | |
| NR_133009.1:n.492G>T | ||
| XM_011514661.1:c.399G>T | XP_011512963.1:p.Val133= | |
| XR_926246.1:n.492G>T | ||
| XM_011514661.2:c.399G>T | XP_011512963.1:p.Val133= | |
| XR_001743466.2:n.1473G>T | ||
| NM_000287.4:c.399G>T MANE Select | NP_000278.3:p.Val133= | |
| NM_001316313.2:c.399G>T | NP_001303242.1:p.Val133= | |
| NR_133009.2:n.430G>T |