Linked Data
ClinVar Variation Id:
375291
ClinVar RCV Id:
RCV000416364
dbSNP Id:
rs1057519333
gnomAD v2:
9-35806160-T-C
gnomAD v4:
9-35806163-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35806163T>C , CM000671.2:g.35806163T>C | GRCh38 |
| NC_000009.11:g.35806160T>C , CM000671.1:g.35806160T>C | GRCh37 |
| NC_000009.10:g.35796160T>C | NCBI36 |
| NG_009249.1:g.18755T>C | |
| NG_047141.1:g.11110A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000421267.6:c.342T>C | ||
| ENST00000448821.6:c.2302T>C | ENSP00000402902.2:p.Cys768Arg | |
| ENST00000685871.1:c.2230T>C | ENSP00000509964.1:p.Cys744Arg | |
| ENST00000686159.1:n.2341T>C | ||
| ENST00000686486.1:n.1472T>C | ||
| ENST00000687302.1:n.2416T>C | ||
| ENST00000687357.1:c.2155T>C | ENSP00000509549.1:p.Cys719Arg | |
| ENST00000687625.1:n.1457T>C | ||
| ENST00000687787.1:c.2461T>C | ENSP00000509440.1:p.Cys821Arg | |
| ENST00000688201.1:n.2259T>C | ||
| ENST00000688226.1:n.2234T>C | ||
| ENST00000688869.1:n.2608T>C | ||
| ENST00000689788.1:c.2096T>C | ENSP00000508973.1:n.2096T>C | |
| ENST00000689898.1:c.2159T>C | ENSP00000509651.1:n.2159T>C | |
| ENST00000690070.1:c.2386T>C | ENSP00000509654.1:p.Cys796Arg | |
| ENST00000690267.1:c.2091T>C | ENSP00000510432.1:n.2091T>C | |
| ENST00000690552.1:n.2163T>C | ||
| ENST00000691138.1:n.2091T>C | ||
| ENST00000691969.1:c.1802T>C | ENSP00000510244.1:n.1802T>C | |
| ENST00000692232.1:n.3617T>C | ||
| ENST00000692233.1:c.2166T>C | ENSP00000509698.1:n.2166T>C | |
| ENST00000692380.1:n.1457T>C | ||
| ENST00000692447.1:n.3418T>C | ||
| ENST00000693094.1:c.2302T>C | ENSP00000510161.1:p.Cys768Arg | |
| ENST00000342694.7:c.2302T>C MANE Select | ENSP00000341083.2:p.Cys768Arg | |
| ENST00000342694.6:c.2302T>C | ENSP00000341083.2:p.Cys768Arg | |
| ENST00000421267.5:c.342T>C | ||
| ENST00000447210.5:c.79T>C | ENSP00000393029.1:p.Cys27Arg | |
| ENST00000464810.5:n.2302T>C | ||
| NM_003995.3:c.2302T>C | NP_003986.2:p.Cys768Arg | |
| XM_005251478.3:c.2311T>C | XP_005251535.1:p.Cys771Arg | |
| XM_005251479.3:c.1324T>C | XP_005251536.1:p.Cys442Arg | |
| XM_006716778.2:c.2239T>C | XP_006716841.1:p.Cys747Arg | |
| XM_011517889.1:c.1324T>C | XP_011516191.1:p.Cys442Arg | |
| XM_011517890.1:c.1324T>C | XP_011516192.1:p.Cys442Arg | |
| XM_011517891.1:c.1324T>C | XP_011516193.1:p.Cys442Arg | |
| XM_011517892.1:c.1324T>C | XP_011516194.1:p.Cys442Arg | |
| XM_011517893.1:c.1324T>C | XP_011516195.1:p.Cys442Arg | |
| XM_011517894.1:c.1324T>C | XP_011516196.1:p.Cys442Arg | |
| XM_011517895.1:c.907T>C | XP_011516197.1:p.Cys303Arg | |
| XM_024447556.1:c.2470T>C | XP_024303324.1:p.Cys824Arg | |
| XM_024447557.1:c.2461T>C | XP_024303325.1:p.Cys821Arg | |
| XM_024447558.1:c.1483T>C | XP_024303326.1:p.Cys495Arg | |
| XM_024447559.1:c.1066T>C | XP_024303327.1:p.Cys356Arg | |
| XM_024447560.1:c.1057T>C | XP_024303328.1:p.Cys353Arg | |
| XM_024447561.1:c.898T>C | XP_024303329.1:p.Cys300Arg | |
| NM_003995.4:c.2302T>C MANE Select | NP_003986.2:p.Cys768Arg | |
| NM_001378923.1:c.2311T>C | NP_001365852.1:p.Cys771Arg |