Linked Data
ClinVar Variation Id:
1655640
ClinVar RCV Id:
RCV002159081
dbSNP Id:
rs2145233462
MyVariant Identifiers:
chr19:g.12760998A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12650184A>G , CM000681.2:g.12650184A>G | GRCh38 |
| NC_000019.9:g.12760998A>G , CM000681.1:g.12760998A>G | GRCh37 |
| NC_000019.8:g.12621998A>G | NCBI36 |
| NG_008318.1:g.21594T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2085T>C MANE Select | ENSP00000395473.2:p.Ala695= | |
| ENST00000221363.8:c.2082T>C | ENSP00000221363.4:p.Ala694= | |
| ENST00000456935.6:c.2085T>C | ENSP00000395473.2:p.Ala695= | |
| ENST00000466794.5:n.2675T>C | ||
| NM_000528.3:c.2085T>C | NP_000519.2:p.Ala695= | |
| NM_001173498.1:c.2082T>C | NP_001166969.1:p.Ala694= | |
| XM_005259913.1:c.2088T>C | XP_005259970.1:p.Ala696= | |
| XM_011528017.1:c.984T>C | XP_011526319.1:p.Ala328= | |
| XM_005259913.2:c.2088T>C | XP_005259970.1:p.Ala696= | |
| XM_024451518.1:c.984T>C | XP_024307286.1:p.Ala328= | |
| NM_000528.4:c.2085T>C MANE Select | NP_000519.2:p.Ala695= | |
| NM_001173498.2:c.2082T>C | NP_001166969.1:p.Ala694= |