Linked Data
ClinVar Variation Id:
1087504
ClinVar RCV Id:
RCV001405662
dbSNP Id:
rs2144638101
MyVariant Identifiers:
chr19:g.1399810G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399811G>C , CM000681.2:g.1399811G>C | GRCh38 |
| NC_000019.9:g.1399810G>C , CM000681.1:g.1399810G>C | GRCh37 |
| NC_000019.8:g.1350810G>C | NCBI36 |
| NG_009785.1:g.6743C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.309C>G MANE Select | ENSP00000252288.1:p.Ala103= | |
| ENST00000447102.8:c.309C>G | ENSP00000403536.2:p.Ala103= | |
| ENST00000640762.1:c.240C>G | ENSP00000492031.1:p.Ala80= | |
| ENST00000252288.6:c.309C>G | ENSP00000252288.1:p.Ala103= | |
| ENST00000447102.7:c.309C>G | ENSP00000403536.2:p.Ala103= | |
| NM_000156.5:c.309C>G | NP_000147.1:p.Ala103= | |
| NM_138924.2:c.309C>G | NP_620279.1:p.Ala103= | |
| NM_000156.6:c.309C>G MANE Select | NP_000147.1:p.Ala103= | |
| NM_138924.3:c.309C>G | NP_620279.1:p.Ala103= |