Linked Data
ClinVar Variation Id:
1686
ClinVar RCV Id:
RCV000001754
dbSNP Id:
rs121434332
gnomAD v4:
19-12652376-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12652376G>A , CM000681.2:g.12652376G>A | GRCh38 |
| NC_000019.9:g.12763190G>A , CM000681.1:g.12763190G>A | GRCh37 |
| NC_000019.8:g.12624190G>A | NCBI36 |
| NG_008318.1:g.19402C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.1915C>T MANE Select | ENSP00000395473.2:p.Gln639Ter | |
| ENST00000221363.8:c.1912C>T | ENSP00000221363.4:p.Gln638Ter | |
| ENST00000433513.5:n.521C>T | ||
| ENST00000456935.6:c.1915C>T | ENSP00000395473.2:p.Gln639Ter | |
| ENST00000466794.5:n.2505C>T | ||
| ENST00000593686.1:c.508C>T | ||
| ENST00000595880.5:n.512C>T | ||
| ENST00000596591.1:c.248C>T | ||
| NM_000528.3:c.1915C>T | NP_000519.2:p.Gln639Ter | |
| NM_001173498.1:c.1912C>T | NP_001166969.1:p.Gln638Ter | |
| XM_005259913.1:c.1918C>T | XP_005259970.1:p.Gln640Ter | |
| XM_011528017.1:c.814C>T | XP_011526319.1:p.Gln272Ter | |
| XM_005259913.2:c.1918C>T | XP_005259970.1:p.Gln640Ter | |
| XM_024451518.1:c.814C>T | XP_024307286.1:p.Gln272Ter | |
| NM_000528.4:c.1915C>T MANE Select | NP_000519.2:p.Gln639Ter | |
| NM_001173498.2:c.1912C>T | NP_001166969.1:p.Gln638Ter |