Linked Data
ClinVar Variation Id:
3018304
ClinVar RCV Id:
RCV003876967
dbSNP Id:
rs1351005021
gnomAD v2:
1-43396361-G-T
gnomAD v4:
1-42930690-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930690G>T , CM000663.2:g.42930690G>T | GRCh38 |
| NC_000001.10:g.43396361G>T , CM000663.1:g.43396361G>T | GRCh37 |
| NC_000001.9:g.43168948G>T | NCBI36 |
| NG_008232.1:g.33487C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.452C>A MANE Select | ENSP00000416293.2:p.Ala151Asp | |
| ENST00000674765.1:c.452C>A | ENSP00000501811.1:p.Ala151Asp | |
| ENST00000675112.1:n.475C>A | ||
| ENST00000676254.1:n.901C>A | ||
| ENST00000426263.7:c.452C>A | ENSP00000416293.2:p.Ala151Asp | |
| ENST00000439722.2:c.331C>A | ENSP00000395521.2:n.331C>A | |
| ENST00000475162.3:c.351C>A | ||
| ENST00000625233.2:n.660C>A | ||
| ENST00000630287.2:c.452C>A | ENSP00000486694.1:p.Ala151Asp | |
| NM_006516.2:c.452C>A | NP_006507.2:p.Ala151Asp | |
| NM_006516.3:c.452C>A | NP_006507.2:p.Ala151Asp | |
| NM_006516.4:c.452C>A MANE Select | NP_006507.2:p.Ala151Asp |