Linked Data
ClinVar Variation Id:
308296
dbSNP Id:
rs750265200
ExAC:
12:32764077 C / G
gnomAD v2:
12-32764077-C-G
gnomAD v3:
12-32611143-C-G
gnomAD v4:
12-32611143-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32611143C>G , CM000674.2:g.32611143C>G | GRCh38 |
| NC_000012.11:g.32764077C>G , CM000674.1:g.32764077C>G | GRCh37 |
| NC_000012.10:g.32655344C>G | NCBI36 |
| NG_008626.2:g.216615C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000427716.7:c.1198C>G | ENSP00000394487.2:p.Leu400Val | |
| ENST00000531134.7:c.1453C>G | ENSP00000431323.1:p.Leu485Val | |
| ENST00000583694.2:c.1198C>G | ENSP00000462623.2:p.Leu400Val | |
| ENST00000682739.1:c.919C>G | ENSP00000507616.1:p.Leu307Val | |
| ENST00000683182.1:c.10C>G | ENSP00000507831.1:p.Leu4Val | |
| ENST00000683515.1:n.705C>G | ||
| ENST00000525053.6:c.1198C>G | ENSP00000433666.2:p.Leu400Val | |
| ENST00000531134.6:c.1453C>G | ENSP00000431323.1:p.Leu485Val | |
| ENST00000534526.7:c.1609C>G MANE Select | ENSP00000449273.1:p.Leu537Val | |
| ENST00000395740.5:c.*590C>G | ENSP00000379089.1:n.*590C>G | |
| ENST00000427716.6:c.1198C>G | ENSP00000394487.2:p.Leu400Val | |
| ENST00000493087.5:c.*609C>G | ENSP00000437109.1:n.*609C>G | |
| ENST00000494977.1:c.787C>G | ||
| ENST00000525053.5:c.1534C>G | ENSP00000433666.1:p.Leu512Val | |
| ENST00000531134.5:c.1453C>G | ENSP00000431323.1:p.Leu485Val | |
| ENST00000534526.6:c.1609C>G | ENSP00000449273.1:p.Leu537Val | |
| ENST00000546442.5:c.919C>G | ENSP00000446695.1:p.Leu307Val | |
| ENST00000551984.5:c.*567C>G | ENSP00000449614.1:n.*567C>G | |
| NM_001304480.1:c.1534C>G | NP_001291409.1:p.Leu512Val | |
| NM_001304481.1:c.1453C>G | NP_001291410.1:p.Leu485Val | |
| NM_001304483.1:c.454C>G | NP_001291412.1:p.Leu152Val | |
| NM_001304484.1:c.166C>G | NP_001291413.1:p.Leu56Val | |
| NM_139241.3:c.1198C>G | NP_640334.2:p.Leu400Val | |
| XM_005253304.3:c.1690C>G | XP_005253361.1:p.Leu564Val | |
| XM_005253307.2:c.919C>G | XP_005253364.1:p.Leu307Val | |
| XM_005253308.3:c.919C>G | XP_005253365.1:p.Leu307Val | |
| XM_005253309.1:c.919C>G | XP_005253366.1:p.Leu307Val | |
| XM_005253310.3:c.454C>G | XP_005253367.1:p.Leu152Val | |
| XM_011520554.1:c.1492C>G | XP_011518856.1:p.Leu498Val | |
| XM_011520555.1:c.1198C>G | XP_011518857.1:p.Leu400Val | |
| XM_011520556.1:c.1198C>G | XP_011518858.1:p.Leu400Val | |
| XM_011520557.1:c.646C>G | XP_011518859.1:p.Leu216Val | |
| XM_011520558.1:c.601C>G | XP_011518860.1:p.Leu201Val | |
| XM_011520559.1:c.433C>G | XP_011518861.1:p.Leu145Val | |
| NM_001330373.1:c.919C>G | NP_001317302.1:p.Leu307Val | |
| NM_001330374.1:c.919C>G | NP_001317303.1:p.Leu307Val | |
| XM_005253304.4:c.1690C>G | XP_005253361.1:p.Leu564Val | |
| XM_005253308.5:c.919C>G | XP_005253365.1:p.Leu307Val | |
| XM_005253310.4:c.454C>G | XP_005253367.1:p.Leu152Val | |
| XM_011520558.2:c.601C>G | XP_011518860.1:p.Leu201Val | |
| XM_011520559.3:c.433C>G | XP_011518861.1:p.Leu145Val | |
| XM_017018803.1:c.1690C>G | XP_016874292.1:p.Leu564Val | |
| XM_017018805.1:c.646C>G | XP_016874294.1:p.Leu216Val | |
| XM_024448837.1:c.919C>G | XP_024304605.1:p.Leu307Val | |
| XM_024448838.1:c.919C>G | XP_024304606.1:p.Leu307Val | |
| XM_024448839.1:c.919C>G | XP_024304607.1:p.Leu307Val | |
| XM_024448840.1:c.307C>G | XP_024304608.1:p.Leu103Val | |
| XR_001748576.1:n.1899C>G | ||
| NM_001370297.1:c.646C>G | NP_001357226.1:p.Leu216Val | |
| NM_001370298.1:c.1690C>G | NP_001357227.1:p.Leu564Val | |
| NM_001304483.2:c.454C>G | NP_001291412.1:p.Leu152Val | |
| NM_001304484.2:c.166C>G | NP_001291413.1:p.Leu56Val | |
| NM_001330373.2:c.919C>G | NP_001317302.1:p.Leu307Val | |
| NM_001330374.2:c.919C>G | NP_001317303.1:p.Leu307Val | |
| NM_001370298.3:c.1609C>G MANE Select | NP_001357227.2:p.Leu537Val | |
| NM_001384126.1:c.1609C>G | NP_001371055.1:p.Leu537Val | |
| NM_001384127.1:c.1198C>G | NP_001371056.1:p.Leu400Val | |
| NM_001384128.1:c.1198C>G | NP_001371057.1:p.Leu400Val | |
| NM_001384130.1:c.919C>G | NP_001371059.1:p.Leu307Val | |
| NM_001385118.1:c.1198C>G | NP_001372047.1:p.Leu400Val |