Linked Data
ClinVar Variation Id:
2009487
ClinVar RCV Id:
RCV002838463
dbSNP Id:
rs1343145308
gnomAD v3:
19-6714020-T-C
gnomAD v4:
19-6714020-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714020T>C , CM000681.2:g.6714020T>C | GRCh38 |
| NC_000019.9:g.6714031T>C , CM000681.1:g.6714031T>C | GRCh37 |
| NC_000019.8:g.6665031T>C | NCBI36 |
| NG_009557.1:g.11632A>G , LRG_27:g.11632A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.622A>G | ENSP00000512083.1:p.Lys208Glu | |
| ENST00000245907.11:c.745A>G MANE Select | ENSP00000245907.4:p.Lys249Glu | |
| ENST00000245907.10:c.745A>G | ENSP00000245907.4:p.Lys249Glu | |
| ENST00000595577.1:n.249A>G | ||
| NM_000064.3:c.745A>G | NP_000055.2:p.Lys249Glu | |
| NM_000064.4:c.745A>G MANE Select | NP_000055.2:p.Lys249Glu |