Linked Data
ClinVar Variation Id:
1036180
ClinVar RCV Id:
RCV001339154
dbSNP Id:
rs780610767
gnomAD v3:
18-31070761-C-A
gnomAD v4:
18-31070761-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31070761C>A , CM000680.2:g.31070761C>A | GRCh38 |
| NC_000018.9:g.28650727C>A , CM000680.1:g.28650727C>A | GRCh37 |
| NC_000018.8:g.26904725C>A | NCBI36 |
| NG_008208.2:g.36665G>T , LRG_400:g.36665G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.1786G>T | ENSP00000507826.1:p.Val596Leu | |
| ENST00000251081.8:c.2215G>T | ENSP00000251081.6:p.Val739Leu | |
| ENST00000280904.11:c.2215G>T MANE Select | ENSP00000280904.6:p.Val739Leu | |
| ENST00000648081.1:c.1786G>T | ENSP00000497441.1:p.Val596Leu | |
| ENST00000251081.6:c.2215G>T | ENSP00000251081.6:p.Val739Leu | |
| ENST00000280904.10:c.2215G>T | ENSP00000280904.6:p.Val739Leu | |
| NM_004949.4:c.2215G>T | NP_004940.1:p.Val739Leu | |
| NM_024422.4:c.2215G>T | NP_077740.1:p.Val739Leu | |
| XM_005258206.3:c.1786G>T | XP_005258263.1:p.Val596Leu | |
| XM_005258206.4:c.1786G>T | XP_005258263.1:p.Val596Leu | |
| NM_004949.5:c.2215G>T | NP_004940.1:p.Val739Leu | |
| NM_024422.6:c.2215G>T MANE Select | NP_077740.1:p.Val739Leu |