Linked Data
ClinVar Variation Id:
308290
dbSNP Id:
rs773609461
ExAC:
12:32755110 A / G
gnomAD v2:
12-32755110-A-G
gnomAD v3:
12-32602176-A-G
gnomAD v4:
12-32602176-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32602176A>G , CM000674.2:g.32602176A>G | GRCh38 |
| NC_000012.11:g.32755110A>G , CM000674.1:g.32755110A>G | GRCh37 |
| NC_000012.10:g.32646377A>G | NCBI36 |
| NG_008626.2:g.207648A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427716.7:c.852A>G | ENSP00000394487.2:p.Arg284= | |
| ENST00000531134.7:c.1107A>G | ENSP00000431323.1:p.Arg369= | |
| ENST00000583694.2:c.852A>G | ENSP00000462623.2:p.Arg284= | |
| ENST00000682739.1:c.573A>G | ENSP00000507616.1:p.Arg191= | |
| ENST00000683182.1:c.-198A>G | ENSP00000507831.1:n.-198A>G | |
| ENST00000683515.1:n.359A>G | ||
| ENST00000525053.6:c.852A>G | ENSP00000433666.2:p.Arg284= | |
| ENST00000531134.6:c.1107A>G | ENSP00000431323.1:p.Arg369= | |
| ENST00000534526.7:c.1263A>G MANE Select | ENSP00000449273.1:p.Arg421= | |
| ENST00000395740.5:c.*244A>G | ENSP00000379089.1:n.*244A>G | |
| ENST00000427716.6:c.852A>G | ENSP00000394487.2:p.Arg284= | |
| ENST00000493087.5:c.*244A>G | ENSP00000437109.1:n.*244A>G | |
| ENST00000494977.1:c.441A>G | ||
| ENST00000525053.5:c.1188A>G | ENSP00000433666.1:p.Arg396= | |
| ENST00000531134.5:c.1107A>G | ENSP00000431323.1:p.Arg369= | |
| ENST00000534526.6:c.1263A>G | ENSP00000449273.1:p.Arg421= | |
| ENST00000546442.5:c.573A>G | ENSP00000446695.1:p.Arg191= | |
| ENST00000551984.5:c.*221A>G | ENSP00000449614.1:n.*221A>G | |
| NM_001304480.1:c.1188A>G | NP_001291409.1:p.Arg396= | |
| NM_001304481.1:c.1107A>G | NP_001291410.1:p.Arg369= | |
| NM_001304483.1:c.108A>G | NP_001291412.1:p.Arg36= | |
| NM_001304484.1:c.-200A>G | NP_001291413.1:n.-200A>G | |
| NM_139241.3:c.852A>G | NP_640334.2:p.Arg284= | |
| XM_005253304.3:c.1344A>G | XP_005253361.1:p.Arg448= | |
| XM_005253307.2:c.573A>G | XP_005253364.1:p.Arg191= | |
| XM_005253308.3:c.573A>G | XP_005253365.1:p.Arg191= | |
| XM_005253309.1:c.573A>G | XP_005253366.1:p.Arg191= | |
| XM_005253310.3:c.108A>G | XP_005253367.1:p.Arg36= | |
| XM_011520554.1:c.1146A>G | XP_011518856.1:p.Arg382= | |
| XM_011520555.1:c.852A>G | XP_011518857.1:p.Arg284= | |
| XM_011520556.1:c.852A>G | XP_011518858.1:p.Arg284= | |
| XM_011520557.1:c.300A>G | XP_011518859.1:p.Arg100= | |
| XM_011520558.1:c.255A>G | XP_011518860.1:p.Arg85= | |
| XM_011520559.1:c.87A>G | XP_011518861.1:p.Arg29= | |
| NM_001330373.1:c.573A>G | NP_001317302.1:p.Arg191= | |
| NM_001330374.1:c.573A>G | NP_001317303.1:p.Arg191= | |
| XM_005253304.4:c.1344A>G | XP_005253361.1:p.Arg448= | |
| XM_005253308.5:c.573A>G | XP_005253365.1:p.Arg191= | |
| XM_005253310.4:c.108A>G | XP_005253367.1:p.Arg36= | |
| XM_011520558.2:c.255A>G | XP_011518860.1:p.Arg85= | |
| XM_011520559.3:c.87A>G | XP_011518861.1:p.Arg29= | |
| XM_017018803.1:c.1344A>G | XP_016874292.1:p.Arg448= | |
| XM_017018805.1:c.300A>G | XP_016874294.1:p.Arg100= | |
| XM_024448837.1:c.573A>G | XP_024304605.1:p.Arg191= | |
| XM_024448838.1:c.573A>G | XP_024304606.1:p.Arg191= | |
| XM_024448839.1:c.573A>G | XP_024304607.1:p.Arg191= | |
| XM_024448840.1:c.-40A>G | XP_024304608.1:n.-40A>G | |
| XR_001748576.1:n.1534A>G | ||
| NM_001370297.1:c.300A>G | NP_001357226.1:p.Arg100= | |
| NM_001370298.1:c.1344A>G | NP_001357227.1:p.Arg448= | |
| NM_001304483.2:c.108A>G | NP_001291412.1:p.Arg36= | |
| NM_001304484.2:c.-200A>G | NP_001291413.1:n.-200A>G | |
| NM_001330373.2:c.573A>G | NP_001317302.1:p.Arg191= | |
| NM_001330374.2:c.573A>G | NP_001317303.1:p.Arg191= | |
| NM_001370298.3:c.1263A>G MANE Select | NP_001357227.2:p.Arg421= | |
| NM_001384126.1:c.1263A>G | NP_001371055.1:p.Arg421= | |
| NM_001384127.1:c.852A>G | NP_001371056.1:p.Arg284= | |
| NM_001384128.1:c.852A>G | NP_001371057.1:p.Arg284= | |
| NM_001384130.1:c.573A>G | NP_001371059.1:p.Arg191= | |
| NM_001385118.1:c.852A>G | NP_001372047.1:p.Arg284= |