Linked Data
ClinVar Variation Id:
2927656
ClinVar RCV Id:
RCV003784286
dbSNP Id:
rs772046977
gnomAD v4:
6-7583379-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7583379A>G , CM000668.2:g.7583379A>G | GRCh38 |
| NC_000006.11:g.7583612A>G , CM000668.1:g.7583612A>G | GRCh37 |
| NC_000006.10:g.7528611A>G | NCBI36 |
| NG_008803.1:g.46743A>G , LRG_423:g.46743A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.4788A>G | ENSP00000518230.1:p.Leu1596= | |
| ENST00000379802.8:c.6117A>G MANE Select | ENSP00000369129.3:p.Leu2039= | |
| ENST00000379802.7:c.6117A>G | ENSP00000369129.3:p.Leu2039= | |
| ENST00000418664.2:c.4320A>G | ENSP00000396591.2:p.Leu1440= | |
| NM_001008844.1:c.4320A>G | NP_001008844.1:p.Leu1440= | |
| NM_004415.2:c.6117A>G , LRG_423t1:c.6117A>G | NP_004406.2:p.Leu2039= | |
| XM_011514323.1:c.4788A>G | XP_011512625.1:p.Leu1596= | |
| NM_001008844.2:c.4320A>G | NP_001008844.1:p.Leu1440= | |
| NM_001319034.1:c.4788A>G | NP_001305963.1:p.Leu1596= | |
| NM_004415.3:c.6117A>G | NP_004406.2:p.Leu2039= | |
| NM_004415.4:c.6117A>G MANE Select | NP_004406.2:p.Leu2039= | |
| NM_001008844.3:c.4320A>G | NP_001008844.1:p.Leu1440= | |
| NM_001319034.2:c.4788A>G | NP_001305963.1:p.Leu1596= |