Linked Data
ClinVar Variation Id:
1558700
ClinVar RCV Id:
RCV002200113
dbSNP Id:
rs2023720244
MyVariant Identifiers:
chr19:g.12758359G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647545G>A , CM000681.2:g.12647545G>A | GRCh38 |
| NC_000019.9:g.12758359G>A , CM000681.1:g.12758359G>A | GRCh37 |
| NC_000019.8:g.12619359G>A | NCBI36 |
| NG_008318.1:g.24233C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2718C>T MANE Select | ENSP00000395473.2:p.Ala906= | |
| ENST00000221363.8:c.2715C>T | ENSP00000221363.4:p.Ala905= | |
| ENST00000456935.6:c.2718C>T | ENSP00000395473.2:p.Ala906= | |
| ENST00000466794.5:n.3308C>T | ||
| ENST00000469423.1:n.40C>T | ||
| ENST00000493218.5:n.129C>T | ||
| ENST00000597692.1:c.277C>T | ||
| NM_000528.3:c.2718C>T | NP_000519.2:p.Ala906= | |
| NM_001173498.1:c.2715C>T | NP_001166969.1:p.Ala905= | |
| XM_005259913.1:c.2721C>T | XP_005259970.1:p.Ala907= | |
| XM_011528017.1:c.1617C>T | XP_011526319.1:p.Ala539= | |
| XM_005259913.2:c.2721C>T | XP_005259970.1:p.Ala907= | |
| XM_024451518.1:c.1617C>T | XP_024307286.1:p.Ala539= | |
| NM_000528.4:c.2718C>T MANE Select | NP_000519.2:p.Ala906= | |
| NM_001173498.2:c.2715C>T | NP_001166969.1:p.Ala905= |