Linked Data
ClinVar Variation Id:
2761307
ClinVar RCV Id:
RCV003524772
MyVariant Identifiers:
chr19:g.41930456G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424551G>C , CM000681.2:g.41424551G>C | GRCh38 |
| NC_000019.9:g.41930456G>C , CM000681.1:g.41930456G>C | GRCh37 |
| NC_000019.8:g.46622296G>C | NCBI36 |
| NG_013004.1:g.31763G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1281G>C MANE Select | ENSP00000269980.2:p.Leu427= | |
| ENST00000269980.6:c.1281G>C | ENSP00000269980.2:p.Leu427= | |
| ENST00000457836.6:c.1290G>C | ENSP00000416000.2:p.Leu430= | |
| ENST00000540732.3:c.1383G>C | ENSP00000443246.1:p.Leu461= | |
| ENST00000544905.1:c.111G>C | ||
| ENST00000595085.5:c.922+1854G>C | ENSP00000471150.2:n.922+1854G>C | |
| NM_000709.3:c.1281G>C | NP_000700.1:p.Leu427= | |
| NM_001164783.1:c.1278G>C | NP_001158255.1:p.Leu426= | |
| NM_000709.4:c.1281G>C MANE Select | NP_000700.1:p.Leu427= | |
| NM_001164783.2:c.1278G>C | NP_001158255.1:p.Leu426= |