Linked Data
ClinVar Variation Id:
1583142
ClinVar RCV Id:
RCV002091375
dbSNP Id:
rs2145221414
gnomAD v4:
19-12647494-T-C
MyVariant Identifiers:
chr19:g.12758308T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647494T>C , CM000681.2:g.12647494T>C | GRCh38 |
| NC_000019.9:g.12758308T>C , CM000681.1:g.12758308T>C | GRCh37 |
| NC_000019.8:g.12619308T>C | NCBI36 |
| NG_008318.1:g.24284A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2769A>G MANE Select | ENSP00000395473.2:p.Val923= | |
| ENST00000221363.8:c.2766A>G | ENSP00000221363.4:p.Val922= | |
| ENST00000456935.6:c.2769A>G | ENSP00000395473.2:p.Val923= | |
| ENST00000466794.5:n.3359A>G | ||
| ENST00000469423.1:n.91A>G | ||
| ENST00000493218.5:n.180A>G | ||
| ENST00000597692.1:c.328A>G | ||
| NM_000528.3:c.2769A>G | NP_000519.2:p.Val923= | |
| NM_001173498.1:c.2766A>G | NP_001166969.1:p.Val922= | |
| XM_005259913.1:c.2772A>G | XP_005259970.1:p.Val924= | |
| XM_011528017.1:c.1668A>G | XP_011526319.1:p.Val556= | |
| XM_005259913.2:c.2772A>G | XP_005259970.1:p.Val924= | |
| XM_024451518.1:c.1668A>G | XP_024307286.1:p.Val556= | |
| NM_000528.4:c.2769A>G MANE Select | NP_000519.2:p.Val923= | |
| NM_001173498.2:c.2766A>G | NP_001166969.1:p.Val922= |