Linked Data
ClinVar Variation Id:
1485095
ClinVar RCV Id:
RCV002008399
dbSNP Id:
rs778212352
ExAC:
18:47109996 T / G
gnomAD v2:
18-47109996-T-G
gnomAD v4:
18-49583626-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49583626T>G , CM000680.2:g.49583626T>G | GRCh38 |
| NC_000018.9:g.47109996T>G , CM000680.1:g.47109996T>G | GRCh37 |
| NC_000018.8:g.45363994T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261292.9:c.1228T>G MANE Select | ENSP00000261292.4:p.Leu410Val | |
| ENST00000261292.8:c.1228T>G | ENSP00000261292.4:p.Leu410Val | |
| ENST00000427224.6:c.1006T>G | ENSP00000387978.2:p.Leu336Val | |
| NM_001308006.1:c.1006T>G | NP_001294935.1:p.Leu336Val | |
| NM_006033.2:c.1228T>G | NP_006024.1:p.Leu410Val | |
| NM_006033.3:c.1228T>G | NP_006024.1:p.Leu410Val | |
| XM_005258390.1:c.1336T>G | XP_005258447.1:p.Leu446Val | |
| XM_011526265.1:c.1114T>G | XP_011524567.1:p.Leu372Val | |
| XM_011526267.1:c.988T>G | XP_011524569.1:p.Leu330Val | |
| XM_011526265.3:c.1114T>G | XP_011524567.1:p.Leu372Val | |
| XM_017026095.1:c.637T>G | XP_016881584.1:p.Leu213Val | |
| NM_006033.4:c.1228T>G MANE Select | NP_006024.1:p.Leu410Val | |
| NM_001308006.2:c.1006T>G | NP_001294935.1:p.Leu336Val |