Linked Data
ClinVar Variation Id:
204380
ClinVar RCV Id:
RCV000209796
dbSNP Id:
rs869312125
PubMed:
PMID:26257134
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41414143A>C , CM000681.2:g.41414143A>C | GRCh38 |
| NC_000019.9:g.41920048A>C , CM000681.1:g.41920048A>C | GRCh37 |
| NC_000019.8:g.46611888A>C | NCBI36 |
| NG_013004.1:g.21355A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.470A>C MANE Select | ENSP00000269980.2:p.Gln157Pro | |
| ENST00000269980.6:c.470A>C | ENSP00000269980.2:p.Gln157Pro | |
| ENST00000457836.6:c.404A>C | ENSP00000416000.2:p.Gln135Pro | |
| ENST00000538423.5:n.596A>C | ||
| ENST00000540732.3:c.572A>C | ENSP00000443246.1:p.Gln191Pro | |
| ENST00000541315.1:c.277A>C | ||
| ENST00000542943.5:c.383A>C | ENSP00000440345.1:p.Gln128Pro | |
| ENST00000595085.5:c.470A>C | ENSP00000471150.2:p.Gln157Pro | |
| NM_000709.3:c.470A>C | NP_000700.1:p.Gln157Pro | |
| NM_001164783.1:c.470A>C | NP_001158255.1:p.Gln157Pro | |
| NM_000709.4:c.470A>C MANE Select | NP_000700.1:p.Gln157Pro | |
| NM_001164783.2:c.470A>C | NP_001158255.1:p.Gln157Pro |