Linked Data
ClinVar Variation Id:
892862
dbSNP Id:
rs1967865144
MyVariant Identifiers:
chr19:g.6709815A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709804A>G , CM000681.2:g.6709804A>G | GRCh38 |
| NC_000019.9:g.6709815A>G , CM000681.1:g.6709815A>G | GRCh37 |
| NC_000019.8:g.6660815A>G | NCBI36 |
| NG_009557.1:g.15848T>C , LRG_27:g.15848T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1602T>C | ENSP00000512083.1:p.Pro534= | |
| ENST00000695654.1:c.849T>C | ENSP00000512085.1:p.Pro283= | |
| ENST00000695655.1:c.666T>C | ENSP00000512086.1:n.666T>C | |
| ENST00000695692.1:n.1089T>C | ||
| ENST00000245907.11:c.1725T>C MANE Select | ENSP00000245907.4:p.Pro575= | |
| ENST00000245907.10:c.1725T>C | ENSP00000245907.4:p.Pro575= | |
| ENST00000600763.1:n.358T>C | ||
| NM_000064.3:c.1725T>C | NP_000055.2:p.Pro575= | |
| NM_000064.4:c.1725T>C MANE Select | NP_000055.2:p.Pro575= |