Linked Data
ClinVar Variation Id:
1520107
ClinVar RCV Id:
RCV002043878
dbSNP Id:
rs1213596075
gnomAD v3:
19-41422275-C-G
gnomAD v4:
19-41422275-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422275C>G , CM000681.2:g.41422275C>G | GRCh38 |
| NC_000019.9:g.41928180C>G , CM000681.1:g.41928180C>G | GRCh37 |
| NC_000019.8:g.46620020C>G | NCBI36 |
| NG_013004.1:g.29487C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.758C>G MANE Select | ENSP00000269980.2:p.Ala253Gly | |
| ENST00000269980.6:c.758C>G | ENSP00000269980.2:p.Ala253Gly | |
| ENST00000457836.6:c.692C>G | ENSP00000416000.2:p.Ala231Gly | |
| ENST00000535632.5:n.387C>G | ||
| ENST00000540732.3:c.860C>G | ENSP00000443246.1:p.Ala287Gly | |
| ENST00000542943.5:c.671C>G | ENSP00000440345.1:p.Ala224Gly | |
| ENST00000545787.1:n.386C>G | ||
| ENST00000595085.5:c.758C>G | ENSP00000471150.2:p.Ala253Gly | |
| NM_000709.3:c.758C>G | NP_000700.1:p.Ala253Gly | |
| NM_001164783.1:c.758C>G | NP_001158255.1:p.Ala253Gly | |
| NM_000709.4:c.758C>G MANE Select | NP_000700.1:p.Ala253Gly | |
| NM_001164783.2:c.758C>G | NP_001158255.1:p.Ala253Gly |