Linked Data
ClinVar Variation Id:
2752108
ClinVar RCV Id:
RCV003527597
MyVariant Identifiers:
chr5:g.127666356C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128330664C>T , CM000667.2:g.128330664C>T | GRCh38 |
| NC_000005.9:g.127666356C>T , CM000667.1:g.127666356C>T | GRCh37 |
| NC_000005.8:g.127694255C>T | NCBI36 |
| NG_008750.1:g.212380G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1038G>A | ||
| ENST00000703785.1:n.1119G>A | ||
| ENST00000262464.9:c.4254G>A MANE Select | ENSP00000262464.4:p.Gln1418= | |
| ENST00000262464.8:c.4254G>A | ENSP00000262464.4:p.Gln1418= | |
| ENST00000507835.5:c.804G>A | ENSP00000426839.1:p.Gln268= | |
| ENST00000508053.5:c.4254G>A | ENSP00000424571.1:p.Gln1418= | |
| ENST00000508989.5:c.4155G>A | ENSP00000425596.1:p.Gln1385= | |
| ENST00000619499.4:c.4251G>A | ENSP00000482132.1:p.Gln1417= | |
| NM_001999.3:c.4254G>A | NP_001990.2:p.Gln1418= | |
| XM_017009228.2:c.4101G>A | XP_016864717.1:p.Gln1367= | |
| NM_001999.4:c.4254G>A MANE Select | NP_001990.2:p.Gln1418= |