Linked Data
ClinVar Variation Id:
2864513
ClinVar RCV Id:
RCV003635511
MyVariant Identifiers:
chr19:g.41916643C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41410738C>T , CM000681.2:g.41410738C>T | GRCh38 |
| NC_000019.9:g.41916643C>T , CM000681.1:g.41916643C>T | GRCh37 |
| NC_000019.8:g.46608483C>T | NCBI36 |
| NG_013004.1:g.17950C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.210C>T MANE Select | ENSP00000269980.2:p.Pro70= | |
| ENST00000269980.6:c.210C>T | ENSP00000269980.2:p.Pro70= | |
| ENST00000457836.6:c.144C>T | ENSP00000416000.2:p.Pro48= | |
| ENST00000538423.5:n.230C>T | ||
| ENST00000540732.3:c.312C>T | ENSP00000443246.1:p.Pro104= | |
| ENST00000541315.1:c.17C>T | ||
| ENST00000542943.5:c.210C>T | ENSP00000440345.1:p.Pro70= | |
| ENST00000595085.5:c.210C>T | ENSP00000471150.2:p.Pro70= | |
| ENST00000604424.1:n.452C>T | ||
| NM_000709.3:c.210C>T | NP_000700.1:p.Pro70= | |
| NM_001164783.1:c.210C>T | NP_001158255.1:p.Pro70= | |
| NM_000709.4:c.210C>T MANE Select | NP_000700.1:p.Pro70= | |
| NM_001164783.2:c.210C>T | NP_001158255.1:p.Pro70= |