Linked Data
ClinVar Variation Id:
1515342
ClinVar RCV Id:
RCV002021020
dbSNP Id:
rs1417360930
gnomAD v4:
19-41423013-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41423013C>G , CM000681.2:g.41423013C>G | GRCh38 |
| NC_000019.9:g.41928918C>G , CM000681.1:g.41928918C>G | GRCh37 |
| NC_000019.8:g.46620758C>G | NCBI36 |
| NG_013004.1:g.30225C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1011C>G MANE Select | ENSP00000269980.2:p.Ser337Arg | |
| ENST00000269980.6:c.1011C>G | ENSP00000269980.2:p.Ser337Arg | |
| ENST00000457836.6:c.1020C>G | ENSP00000416000.2:p.Ser340Arg | |
| ENST00000540732.3:c.1113C>G | ENSP00000443246.1:p.Ser371Arg | |
| ENST00000542943.5:c.924C>G | ENSP00000440345.1:p.Ser308Arg | |
| ENST00000595085.5:c.922+316C>G | ENSP00000471150.2:n.922+316C>G | |
| NM_000709.3:c.1011C>G | NP_000700.1:p.Ser337Arg | |
| NM_001164783.1:c.1008C>G | NP_001158255.1:p.Ser336Arg | |
| NM_000709.4:c.1011C>G MANE Select | NP_000700.1:p.Ser337Arg | |
| NM_001164783.2:c.1008C>G | NP_001158255.1:p.Ser336Arg |