Linked Data
ClinVar Variation Id:
2096148
ClinVar RCV Id:
RCV003028145
MyVariant Identifiers:
chr19:g.12758108G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647294G>C , CM000681.2:g.12647294G>C | GRCh38 |
| NC_000019.9:g.12758108G>C , CM000681.1:g.12758108G>C | GRCh37 |
| NC_000019.8:g.12619108G>C | NCBI36 |
| NG_008318.1:g.24484C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2862C>G MANE Select | ENSP00000395473.2:p.Thr954= | |
| ENST00000221363.8:c.2859C>G | ENSP00000221363.4:p.Thr953= | |
| ENST00000456935.6:c.2862C>G | ENSP00000395473.2:p.Thr954= | |
| ENST00000466794.5:n.3452C>G | ||
| ENST00000469423.1:n.291C>G | ||
| ENST00000493218.5:n.273C>G | ||
| ENST00000597692.1:c.421C>G | ||
| NM_000528.3:c.2862C>G | NP_000519.2:p.Thr954= | |
| NM_001173498.1:c.2859C>G | NP_001166969.1:p.Thr953= | |
| XM_005259913.1:c.2865C>G | XP_005259970.1:p.Thr955= | |
| XM_011528017.1:c.1761C>G | XP_011526319.1:p.Thr587= | |
| XM_005259913.2:c.2865C>G | XP_005259970.1:p.Thr955= | |
| XM_024451518.1:c.1761C>G | XP_024307286.1:p.Thr587= | |
| NM_000528.4:c.2862C>G MANE Select | NP_000519.2:p.Thr954= | |
| NM_001173498.2:c.2859C>G | NP_001166969.1:p.Thr953= |