Linked Data
ClinVar Variation Id:
776338
ClinVar RCV Id:
RCV000956622
dbSNP Id:
rs80221535
ExAC:
1:100624947 G / A
gnomAD v2:
1-100624947-G-A
gnomAD v3:
1-100159391-G-A
gnomAD v4:
1-100159391-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100159391G>A , CM000663.2:g.100159391G>A | GRCh38 |
| NC_000001.10:g.100624947G>A , CM000663.1:g.100624947G>A | GRCh37 |
| NC_000001.9:g.100397535G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342895.8:c.244C>T | ENSP00000344470.3:p.Leu82= | |
| ENST00000370137.6:c.244C>T MANE Select | ENSP00000359156.1:p.Leu82= | |
| ENST00000342895.7:c.244C>T | ENSP00000344470.3:p.Leu82= | |
| ENST00000370137.5:c.244C>T | ENSP00000359156.1:p.Leu82= | |
| ENST00000370138.1:c.244C>T | ENSP00000359157.1:p.Leu82= | |
| ENST00000620882.4:c.244C>T | ENSP00000480740.1:p.Leu82= | |
| NM_001256385.1:c.244C>T | NP_001243314.1:p.Leu82= | |
| NM_001256386.1:c.244C>T | NP_001243315.1:p.Leu82= | |
| NM_001256387.1:c.244C>T | NP_001243316.1:p.Leu82= | |
| NM_144620.3:c.244C>T | NP_653221.1:p.Leu82= | |
| XM_011540678.1:c.244C>T | XP_011538980.1:p.Leu82= | |
| NM_001256385.2:c.244C>T | NP_001243314.1:p.Leu82= | |
| NM_001256386.2:c.244C>T | NP_001243315.1:p.Leu82= | |
| NM_001256387.2:c.244C>T | NP_001243316.1:p.Leu82= | |
| NM_144620.4:c.244C>T MANE Select | NP_653221.1:p.Leu82= |