Linked Data
dbSNP Id:
rs766256429
ExAC:
9:35806471 C / G
gnomAD v2:
9-35806471-C-G
gnomAD v4:
9-35806474-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35806474C>G , CM000671.2:g.35806474C>G | GRCh38 |
| NC_000009.11:g.35806471C>G , CM000671.1:g.35806471C>G | GRCh37 |
| NC_000009.10:g.35796471C>G | NCBI36 |
| NG_009249.1:g.19066C>G | |
| NG_047141.1:g.10799G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421267.6:c.495C>G | ||
| ENST00000448821.6:c.2455C>G | ENSP00000402902.2:p.Arg819Gly | |
| ENST00000685871.1:c.2383C>G | ENSP00000509964.1:p.Arg795Gly | |
| ENST00000686159.1:n.2494C>G | ||
| ENST00000686486.1:n.1625C>G | ||
| ENST00000687302.1:n.2569C>G | ||
| ENST00000687357.1:c.2308C>G | ENSP00000509549.1:p.Arg770Gly | |
| ENST00000687625.1:n.1610C>G | ||
| ENST00000687787.1:c.2614C>G | ENSP00000509440.1:p.Arg872Gly | |
| ENST00000688201.1:n.2412C>G | ||
| ENST00000688226.1:n.2387C>G | ||
| ENST00000688869.1:n.2761C>G | ||
| ENST00000689788.1:c.2249C>G | ENSP00000508973.1:n.2249C>G | |
| ENST00000689898.1:c.2312C>G | ENSP00000509651.1:n.2312C>G | |
| ENST00000690070.1:c.2539C>G | ENSP00000509654.1:p.Arg847Gly | |
| ENST00000690267.1:c.2244C>G | ENSP00000510432.1:n.2244C>G | |
| ENST00000690552.1:n.2316C>G | ||
| ENST00000691138.1:n.2244C>G | ||
| ENST00000691969.1:c.1955C>G | ENSP00000510244.1:n.1955C>G | |
| ENST00000692232.1:n.3770C>G | ||
| ENST00000692233.1:c.2319C>G | ENSP00000509698.1:n.2319C>G | |
| ENST00000692380.1:n.1610C>G | ||
| ENST00000692447.1:n.3571C>G | ||
| ENST00000693094.1:c.2455C>G | ENSP00000510161.1:p.Arg819Gly | |
| ENST00000342694.7:c.2455C>G MANE Select | ENSP00000341083.2:p.Arg819Gly | |
| ENST00000342694.6:c.2455C>G | ENSP00000341083.2:p.Arg819Gly | |
| ENST00000421267.5:c.495C>G | ||
| ENST00000447210.5:c.232C>G | ENSP00000393029.1:p.Arg78Gly | |
| ENST00000464810.5:n.2455C>G | ||
| NM_003995.3:c.2455C>G | NP_003986.2:p.Arg819Gly | |
| XM_005251478.3:c.2464C>G | XP_005251535.1:p.Arg822Gly | |
| XM_005251479.3:c.1477C>G | XP_005251536.1:p.Arg493Gly | |
| XM_006716778.2:c.2392C>G | XP_006716841.1:p.Arg798Gly | |
| XM_011517889.1:c.1477C>G | XP_011516191.1:p.Arg493Gly | |
| XM_011517890.1:c.1477C>G | XP_011516192.1:p.Arg493Gly | |
| XM_011517891.1:c.1477C>G | XP_011516193.1:p.Arg493Gly | |
| XM_011517892.1:c.1477C>G | XP_011516194.1:p.Arg493Gly | |
| XM_011517893.1:c.1477C>G | XP_011516195.1:p.Arg493Gly | |
| XM_011517894.1:c.1477C>G | XP_011516196.1:p.Arg493Gly | |
| XM_011517895.1:c.1060C>G | XP_011516197.1:p.Arg354Gly | |
| XM_024447556.1:c.2623C>G | XP_024303324.1:p.Arg875Gly | |
| XM_024447557.1:c.2614C>G | XP_024303325.1:p.Arg872Gly | |
| XM_024447558.1:c.1636C>G | XP_024303326.1:p.Arg546Gly | |
| XM_024447559.1:c.1219C>G | XP_024303327.1:p.Arg407Gly | |
| XM_024447560.1:c.1210C>G | XP_024303328.1:p.Arg404Gly | |
| XM_024447561.1:c.1051C>G | XP_024303329.1:p.Arg351Gly | |
| NM_003995.4:c.2455C>G MANE Select | NP_003986.2:p.Arg819Gly | |
| NM_001378923.1:c.2464C>G | NP_001365852.1:p.Arg822Gly |