Linked Data
dbSNP Id:
rs778737241
ExAC:
9:35806162 T / C
gnomAD v2:
9-35806162-T-C
gnomAD v4:
9-35806165-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35806165T>C , CM000671.2:g.35806165T>C | GRCh38 |
| NC_000009.11:g.35806162T>C , CM000671.1:g.35806162T>C | GRCh37 |
| NC_000009.10:g.35796162T>C | NCBI36 |
| NG_009249.1:g.18757T>C | |
| NG_047141.1:g.11108A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421267.6:c.344T>C | ||
| ENST00000448821.6:c.2304T>C | ENSP00000402902.2:p.Cys768= | |
| ENST00000685871.1:c.2232T>C | ENSP00000509964.1:p.Cys744= | |
| ENST00000686159.1:n.2343T>C | ||
| ENST00000686486.1:n.1474T>C | ||
| ENST00000687302.1:n.2418T>C | ||
| ENST00000687357.1:c.2157T>C | ENSP00000509549.1:p.Cys719= | |
| ENST00000687625.1:n.1459T>C | ||
| ENST00000687787.1:c.2463T>C | ENSP00000509440.1:p.Cys821= | |
| ENST00000688201.1:n.2261T>C | ||
| ENST00000688226.1:n.2236T>C | ||
| ENST00000688869.1:n.2610T>C | ||
| ENST00000689788.1:c.2098T>C | ENSP00000508973.1:n.2098T>C | |
| ENST00000689898.1:c.2161T>C | ENSP00000509651.1:n.2161T>C | |
| ENST00000690070.1:c.2388T>C | ENSP00000509654.1:p.Cys796= | |
| ENST00000690267.1:c.2093T>C | ENSP00000510432.1:n.2093T>C | |
| ENST00000690552.1:n.2165T>C | ||
| ENST00000691138.1:n.2093T>C | ||
| ENST00000691969.1:c.1804T>C | ENSP00000510244.1:n.1804T>C | |
| ENST00000692232.1:n.3619T>C | ||
| ENST00000692233.1:c.2168T>C | ENSP00000509698.1:n.2168T>C | |
| ENST00000692380.1:n.1459T>C | ||
| ENST00000692447.1:n.3420T>C | ||
| ENST00000693094.1:c.2304T>C | ENSP00000510161.1:p.Cys768= | |
| ENST00000342694.7:c.2304T>C MANE Select | ENSP00000341083.2:p.Cys768= | |
| ENST00000342694.6:c.2304T>C | ENSP00000341083.2:p.Cys768= | |
| ENST00000421267.5:c.344T>C | ||
| ENST00000447210.5:c.81T>C | ENSP00000393029.1:p.Cys27= | |
| ENST00000464810.5:n.2304T>C | ||
| NM_003995.3:c.2304T>C | NP_003986.2:p.Cys768= | |
| XM_005251478.3:c.2313T>C | XP_005251535.1:p.Cys771= | |
| XM_005251479.3:c.1326T>C | XP_005251536.1:p.Cys442= | |
| XM_006716778.2:c.2241T>C | XP_006716841.1:p.Cys747= | |
| XM_011517889.1:c.1326T>C | XP_011516191.1:p.Cys442= | |
| XM_011517890.1:c.1326T>C | XP_011516192.1:p.Cys442= | |
| XM_011517891.1:c.1326T>C | XP_011516193.1:p.Cys442= | |
| XM_011517892.1:c.1326T>C | XP_011516194.1:p.Cys442= | |
| XM_011517893.1:c.1326T>C | XP_011516195.1:p.Cys442= | |
| XM_011517894.1:c.1326T>C | XP_011516196.1:p.Cys442= | |
| XM_011517895.1:c.909T>C | XP_011516197.1:p.Cys303= | |
| XM_024447556.1:c.2472T>C | XP_024303324.1:p.Cys824= | |
| XM_024447557.1:c.2463T>C | XP_024303325.1:p.Cys821= | |
| XM_024447558.1:c.1485T>C | XP_024303326.1:p.Cys495= | |
| XM_024447559.1:c.1068T>C | XP_024303327.1:p.Cys356= | |
| XM_024447560.1:c.1059T>C | XP_024303328.1:p.Cys353= | |
| XM_024447561.1:c.900T>C | XP_024303329.1:p.Cys300= | |
| NM_003995.4:c.2304T>C MANE Select | NP_003986.2:p.Cys768= | |
| NM_001378923.1:c.2313T>C | NP_001365852.1:p.Cys771= |