Linked Data
dbSNP Id:
rs745438305
ExAC:
11:18309205 C / A
gnomAD v2:
11-18309205-C-A
gnomAD v4:
11-18287658-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18287658C>A , CM000673.2:g.18287658C>A | GRCh38 |
| NC_000011.9:g.18309205C>A , CM000673.1:g.18309205C>A | GRCh37 |
| NC_000011.8:g.18265781C>A | NCBI36 |
| NG_008877.1:g.39517G>T , LRG_586:g.39517G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349215.8:c.2594G>T MANE Select | ENSP00000265967.5:p.Arg865Leu | |
| ENST00000349215.7:c.2594G>T | ENSP00000265967.5:p.Arg865Leu | |
| ENST00000352460.7:n.985G>T | ||
| ENST00000396253.7:c.2252G>T | ENSP00000379552.3:p.Arg751Leu | |
| ENST00000438420.6:c.2252G>T | ENSP00000399590.2:p.Arg751Leu | |
| ENST00000544218.5:c.152G>T | ENSP00000441781.1:p.Arg51Leu | |
| ENST00000545561.1:n.655G>T | ||
| NM_007216.3:c.2252G>T | NP_009147.3:p.Arg751Leu | |
| NM_181507.1:c.2594G>T , LRG_586t1:c.2594G>T | NP_852608.1:p.Arg865Leu | |
| NM_181508.1:c.2252G>T | NP_852609.1:p.Arg751Leu | |
| XM_011519862.1:c.2594G>T | XP_011518164.1:p.Arg865Leu | |
| XM_011519863.1:c.2594G>T | XP_011518165.1:p.Arg865Leu | |
| XM_011519864.1:c.2594G>T | XP_011518166.1:p.Arg865Leu | |
| XM_011519865.1:c.2483G>T | XP_011518167.1:p.Arg828Leu | |
| XM_011519866.1:c.2252G>T | XP_011518168.1:p.Arg751Leu | |
| XM_011519867.1:c.2252G>T | XP_011518169.1:p.Arg751Leu | |
| XM_011519868.1:c.2252G>T | XP_011518170.1:p.Arg751Leu | |
| XM_011519869.1:c.2594G>T | XP_011518171.1:p.Arg865Leu | |
| XM_011519870.1:c.*78G>T | XP_011518172.1:n.*78G>T | |
| XM_011519871.1:c.*78G>T | XP_011518173.1:n.*78G>T | |
| XM_011519868.3:c.2252G>T | XP_011518170.1:p.Arg751Leu | |
| XM_017017149.1:c.2594G>T | XP_016872638.1:p.Arg865Leu | |
| XM_017017150.1:c.2594G>T | XP_016872639.1:p.Arg865Leu | |
| XM_017017151.2:c.2483G>T | XP_016872640.1:p.Arg828Leu | |
| XM_017017152.1:c.2483G>T | XP_016872641.1:p.Arg828Leu | |
| XM_017017153.2:c.2483G>T | XP_016872642.1:p.Arg828Leu | |
| XM_017017154.1:c.2252G>T | XP_016872643.1:p.Arg751Leu | |
| XR_001747750.1:n.2863G>T | ||
| XR_001747751.1:n.2863G>T | ||
| XR_001747752.1:n.2619G>T | ||
| XR_001747753.1:n.2736G>T | ||
| XR_001747754.2:n.2260G>T | ||
| XR_001747755.2:n.2182G>T | ||
| XR_001747756.2:n.2195G>T | ||
| NM_007216.4:c.2252G>T | NP_009147.3:p.Arg751Leu | |
| NM_181507.2:c.2594G>T MANE Select | NP_852608.1:p.Arg865Leu |