Linked Data
ClinVar Variation Id:
384061
ClinVar RCV Id:
RCV000864617
RCV001720199
RCV003446008
RCV003446009
RCV003446005
RCV003446006
RCV003446007
dbSNP Id:
rs368242382
ExAC:
1:43395309 G / A
gnomAD v2:
1-43395309-G-A
gnomAD v3:
1-42929638-G-A
gnomAD v4:
1-42929638-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929638G>A , CM000663.2:g.42929638G>A | GRCh38 |
| NC_000001.10:g.43395309G>A , CM000663.1:g.43395309G>A | GRCh37 |
| NC_000001.9:g.43167896G>A | NCBI36 |
| NG_008232.1:g.34539C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.822C>T MANE Select | ENSP00000416293.2:p.Ile274= | |
| ENST00000674765.1:c.822C>T | ENSP00000501811.1:p.Ile274= | |
| ENST00000675112.1:n.845C>T | ||
| ENST00000676254.1:n.1271C>T | ||
| ENST00000426263.7:c.822C>T | ENSP00000416293.2:p.Ile274= | |
| ENST00000439722.2:c.701C>T | ENSP00000395521.2:n.701C>T | |
| ENST00000475162.3:c.415+988C>T | ||
| ENST00000630287.2:c.*137C>T | ENSP00000486694.1:n.*137C>T | |
| NM_006516.2:c.822C>T | NP_006507.2:p.Ile274= | |
| NM_006516.3:c.822C>T | NP_006507.2:p.Ile274= | |
| NM_006516.4:c.822C>T MANE Select | NP_006507.2:p.Ile274= |