Linked Data
ClinVar Variation Id:
2165784
ClinVar RCV Id:
RCV003090158
gnomAD v4:
19-12661362-G-T
MyVariant Identifiers:
chr19:g.12772176G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12661362G>T , CM000681.2:g.12661362G>T | GRCh38 |
| NC_000019.9:g.12772176G>T , CM000681.1:g.12772176G>T | GRCh37 |
| NC_000019.8:g.12633176G>T | NCBI36 |
| NG_008318.1:g.10416C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.924C>A MANE Select | ENSP00000395473.2:p.Arg308= | |
| ENST00000221363.8:c.924C>A | ENSP00000221363.4:p.Arg308= | |
| ENST00000456935.6:c.924C>A | ENSP00000395473.2:p.Arg308= | |
| ENST00000462144.1:n.117C>A | ||
| ENST00000466794.5:n.906C>A | ||
| NM_000528.3:c.924C>A | NP_000519.2:p.Arg308= | |
| NM_001173498.1:c.924C>A | NP_001166969.1:p.Arg308= | |
| XM_005259913.1:c.924C>A | XP_005259970.1:p.Arg308= | |
| XM_011528017.1:c.-95C>A | XP_011526319.1:n.-95C>A | |
| XM_005259913.2:c.924C>A | XP_005259970.1:p.Arg308= | |
| XM_024451518.1:c.-95C>A | XP_024307286.1:n.-95C>A | |
| NM_000528.4:c.924C>A MANE Select | NP_000519.2:p.Arg308= | |
| NM_001173498.2:c.924C>A | NP_001166969.1:p.Arg308= |