Linked Data
ClinVar Variation Id:
765410
ClinVar RCV Id:
RCV001443155
dbSNP Id:
rs1192566664
gnomAD v2:
19-41928154-G-A
gnomAD v3:
19-41422249-G-A
gnomAD v4:
19-41422249-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422249G>A , CM000681.2:g.41422249G>A | GRCh38 |
| NC_000019.9:g.41928154G>A , CM000681.1:g.41928154G>A | GRCh37 |
| NC_000019.8:g.46619994G>A | NCBI36 |
| NG_013004.1:g.29461G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.732G>A MANE Select | ENSP00000269980.2:p.Gly244= | |
| ENST00000269980.6:c.732G>A | ENSP00000269980.2:p.Gly244= | |
| ENST00000457836.6:c.666G>A | ENSP00000416000.2:p.Gly222= | |
| ENST00000535632.5:n.361G>A | ||
| ENST00000540732.3:c.834G>A | ENSP00000443246.1:p.Gly278= | |
| ENST00000541315.1:c.632G>A | ||
| ENST00000542943.5:c.645G>A | ENSP00000440345.1:p.Gly215= | |
| ENST00000545787.1:n.360G>A | ||
| ENST00000595085.5:c.732G>A | ENSP00000471150.2:p.Gly244= | |
| NM_000709.3:c.732G>A | NP_000700.1:p.Gly244= | |
| NM_001164783.1:c.732G>A | NP_001158255.1:p.Gly244= | |
| NM_000709.4:c.732G>A MANE Select | NP_000700.1:p.Gly244= | |
| NM_001164783.2:c.732G>A | NP_001158255.1:p.Gly244= |