Linked Data
ClinVar Variation Id:
1130758
ClinVar RCV Id:
RCV001464361
dbSNP Id:
rs76860965
gnomAD v2:
1-43393399-G-T
gnomAD v4:
1-42927728-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927728G>T , CM000663.2:g.42927728G>T | GRCh38 |
| NC_000001.10:g.43393399G>T , CM000663.1:g.43393399G>T | GRCh37 |
| NC_000001.9:g.43165986G>T | NCBI36 |
| NG_008232.1:g.36449C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1155C>A MANE Select | ENSP00000416293.2:p.Pro385= | |
| ENST00000674545.1:n.1772C>A | ||
| ENST00000674765.1:c.1030-871C>A | ENSP00000501811.1:n.1030-871C>A | |
| ENST00000675112.1:n.1456C>A | ||
| ENST00000676254.1:n.1604C>A | ||
| ENST00000426263.7:c.1155C>A | ENSP00000416293.2:p.Pro385= | |
| ENST00000475162.3:c.416-750C>A | ||
| ENST00000630287.2:c.*470C>A | ENSP00000486694.1:n.*470C>A | |
| NM_006516.2:c.1155C>A | NP_006507.2:p.Pro385= | |
| NM_006516.3:c.1155C>A | NP_006507.2:p.Pro385= | |
| NM_006516.4:c.1155C>A MANE Select | NP_006507.2:p.Pro385= |