Linked Data
ClinVar Variation Id:
2380
ClinVar RCV Id:
RCV001818118
dbSNP Id:
rs137852874
ExAC:
19:41928167 G / A
gnomAD v2:
19-41928167-G-A
gnomAD v3:
19-41422262-G-A
gnomAD v4:
19-41422262-G-A
PubMed:
PMID:9582350
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422262G>A , CM000681.2:g.41422262G>A | GRCh38 |
| NC_000019.9:g.41928167G>A , CM000681.1:g.41928167G>A | GRCh37 |
| NC_000019.8:g.46620007G>A | NCBI36 |
| NG_013004.1:g.29474G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269980.7:c.745G>A MANE Select | ENSP00000269980.2:p.Gly249Ser | |
| ENST00000269980.6:c.745G>A | ENSP00000269980.2:p.Gly249Ser | |
| ENST00000457836.6:c.679G>A | ENSP00000416000.2:p.Gly227Ser | |
| ENST00000535632.5:n.374G>A | ||
| ENST00000540732.3:c.847G>A | ENSP00000443246.1:p.Gly283Ser | |
| ENST00000542943.5:c.658G>A | ENSP00000440345.1:p.Gly220Ser | |
| ENST00000545787.1:n.373G>A | ||
| ENST00000595085.5:c.745G>A | ENSP00000471150.2:p.Gly249Ser | |
| NM_000709.3:c.745G>A | NP_000700.1:p.Gly249Ser | |
| NM_001164783.1:c.745G>A | NP_001158255.1:p.Gly249Ser | |
| NM_000709.4:c.745G>A MANE Select | NP_000700.1:p.Gly249Ser | |
| NM_001164783.2:c.745G>A | NP_001158255.1:p.Gly249Ser |