Linked Data
ClinVar Variation Id:
2134561
ClinVar RCV Id:
RCV003058149
MyVariant Identifiers:
chr19:g.6714205G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714194G>A , CM000681.2:g.6714194G>A | GRCh38 |
| NC_000019.9:g.6714205G>A , CM000681.1:g.6714205G>A | GRCh37 |
| NC_000019.8:g.6665205G>A | NCBI36 |
| NG_009557.1:g.11458C>T , LRG_27:g.11458C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.531C>T | ENSP00000512083.1:p.Phe177= | |
| ENST00000245907.11:c.654C>T MANE Select | ENSP00000245907.4:p.Phe218= | |
| ENST00000245907.10:c.654C>T | ENSP00000245907.4:p.Phe218= | |
| ENST00000595577.1:n.158C>T | ||
| NM_000064.3:c.654C>T | NP_000055.2:p.Phe218= | |
| NM_000064.4:c.654C>T MANE Select | NP_000055.2:p.Phe218= |