Linked Data
ClinVar Variation Id:
2662634
ClinVar RCV Id:
RCV003441299
dbSNP Id:
rs1789424748
gnomAD v4:
7-81706309-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.81706309G>C , CM000669.2:g.81706309G>C | GRCh38 |
| NC_000007.13:g.81335625G>C , CM000669.1:g.81335625G>C | GRCh37 |
| NC_000007.12:g.81173561G>C | NCBI36 |
| NG_016274.1:g.68828C>G | |
| NG_016274.2:g.68828C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222390.11:c.1735C>G MANE Select | ENSP00000222390.5:p.Leu579Val | |
| ENST00000457544.7:c.1720C>G | ENSP00000391238.2:p.Leu574Val | |
| ENST00000222390.9:c.1735C>G | ENSP00000222390.5:p.Leu579Val | |
| ENST00000457544.6:c.1720C>G | ENSP00000391238.2:p.Leu574Val | |
| NM_000601.4:c.1735C>G | NP_000592.3:p.Leu579Val | |
| NM_001010932.1:c.1720C>G | NP_001010932.1:p.Leu574Val | |
| XM_006715956.2:c.1735C>G | XP_006716019.1:p.Leu579Val | |
| XM_011516115.1:c.1720C>G | XP_011514417.1:p.Leu574Val | |
| NM_000601.5:c.1735C>G | NP_000592.3:p.Leu579Val | |
| NM_001010932.2:c.1720C>G | NP_001010932.1:p.Leu574Val | |
| XM_011516115.2:c.1720C>G | XP_011514417.1:p.Leu574Val | |
| NM_000601.6:c.1735C>G MANE Select | NP_000592.3:p.Leu579Val | |
| NM_001010932.3:c.1720C>G | NP_001010932.1:p.Leu574Val |