Linked Data
ClinVar Variation Id:
366241
ClinVar RCV Id:
RCV000274651
dbSNP Id:
rs762121645
ExAC:
9:21818154 G / A
gnomAD v2:
9-21818154-G-A
gnomAD v3:
9-21818155-G-A
gnomAD v4:
9-21818155-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21818155G>A , CM000671.2:g.21818155G>A | GRCh38 |
| NC_000009.11:g.21818154G>A , CM000671.1:g.21818154G>A | GRCh37 |
| NC_000009.10:g.21808154G>A | NCBI36 |
| NG_032650.1:g.20520G>A | |
| NG_032650.2:g.20520G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000404796.3:c.300G>A | ENSP00000385916.2:p.Glu100= | |
| ENST00000644715.2:c.300G>A MANE Select | ENSP00000494373.1:p.Glu100= | |
| ENST00000380172.8:c.300G>A | ENSP00000369519.4:p.Glu100= | |
| ENST00000404796.2:c.300G>A | ENSP00000385916.2:p.Glu100= | |
| ENST00000419385.5:c.*172G>A | ENSP00000393507.1:n.*172G>A | |
| ENST00000427788.2:n.686G>A | ||
| ENST00000460874.6:c.351G>A | ENSP00000461932.1:p.Glu117= | |
| ENST00000580718.1:c.300G>A | ENSP00000464616.1:p.Glu100= | |
| ENST00000580900.5:c.300G>A | ENSP00000463424.1:p.Glu100= | |
| NM_002451.3:c.300G>A | NP_002442.2:p.Glu100= | |
| NM_002451.4:c.300G>A MANE Select | NP_002442.2:p.Glu100= | |
| NM_001396040.1:c.351G>A | NP_001382969.1:p.Glu117= | |
| NM_001396041.1:c.300G>A | NP_001382970.1:p.Glu100= | |
| NM_001396042.1:c.300G>A | NP_001382971.1:p.Glu100= | |
| NM_001396043.1:c.300G>A | NP_001382972.1:p.Glu100= | |
| NM_001396044.1:c.300G>A | NP_001382973.1:p.Glu100= | |
| NM_001396045.1:c.300G>A | NP_001382974.1:p.Glu100= | |
| NR_173242.1:n.413G>A |