Linked Data
ClinVar Variation Id:
316786
dbSNP Id:
rs371550495
ExAC:
15:65916488 C / T
gnomAD v2:
15-65916488-C-T
gnomAD v3:
15-65624150-C-T
gnomAD v4:
15-65624150-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65624150C>T , CM000677.2:g.65624150C>T | GRCh38 |
| NC_000015.9:g.65916488C>T , CM000677.1:g.65916488C>T | GRCh37 |
| NC_000015.8:g.63703541C>T | NCBI36 |
| NG_031968.1:g.7219C>T | |
| NG_031968.2:g.17746C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261892.11:c.70C>T MANE Select | ENSP00000261892.6:p.Arg24Cys | |
| ENST00000261892.10:c.70C>T | ENSP00000261892.6:p.Arg24Cys | |
| ENST00000339868.10:c.70C>T | ENSP00000341837.7:p.Arg24Cys | |
| ENST00000399033.8:c.70C>T | ENSP00000381991.4:p.Arg24Cys | |
| ENST00000425561.3:n.526-1667C>T | ||
| ENST00000434116.6:n.1545C>T | ||
| ENST00000537259.5:c.70C>T | ENSP00000439693.1:p.Arg24Cys | |
| ENST00000544319.6:c.70C>T | ENSP00000445163.1:p.Arg24Cys | |
| ENST00000546330.1:c.70C>T | ENSP00000439190.1:p.Arg24Cys | |
| NM_001301031.1:c.70C>T | NP_001287960.1:p.Arg24Cys | |
| NM_001301032.1:c.70C>T | NP_001287961.1:p.Arg24Cys | |
| NM_001301033.1:c.70C>T | NP_001287962.1:p.Arg24Cys | |
| NM_004727.2:c.70C>T | NP_004718.1:p.Arg24Cys | |
| XM_005254778.3:c.70C>T | XP_005254835.1:p.Arg24Cys | |
| XM_005254781.2:c.70C>T | XP_005254838.1:p.Arg24Cys | |
| XM_006720764.2:c.70C>T | XP_006720827.1:p.Arg24Cys | |
| XM_006720767.2:c.70C>T | XP_006720830.1:p.Arg24Cys | |
| XM_006720768.2:c.70C>T | XP_006720831.1:p.Arg24Cys | |
| XM_006720769.2:c.70C>T | XP_006720832.1:p.Arg24Cys | |
| XM_011522219.1:c.70C>T | XP_011520521.1:p.Arg24Cys | |
| XM_011522220.1:c.70C>T | XP_011520522.1:p.Arg24Cys | |
| XM_011522221.1:c.70C>T | XP_011520523.1:p.Arg24Cys | |
| XM_011522222.1:c.70C>T | XP_011520524.1:p.Arg24Cys | |
| XM_011522223.1:c.70C>T | XP_011520525.1:p.Arg24Cys | |
| XM_011522225.1:c.70C>T | XP_011520527.1:p.Arg24Cys | |
| XM_011522226.1:c.70C>T | XP_011520528.1:p.Arg24Cys | |
| XM_005254778.4:c.70C>T | XP_005254835.1:p.Arg24Cys | |
| XM_005254781.4:c.70C>T | XP_005254838.1:p.Arg24Cys | |
| XM_006720768.4:c.70C>T | XP_006720831.1:p.Arg24Cys | |
| XM_011522220.3:c.70C>T | XP_011520522.1:p.Arg24Cys | |
| XM_011522221.3:c.70C>T | XP_011520523.1:p.Arg24Cys | |
| XM_011522222.3:c.70C>T | XP_011520524.1:p.Arg24Cys | |
| XM_011522226.3:c.70C>T | XP_011520528.1:p.Arg24Cys | |
| XM_017022724.2:c.70C>T | XP_016878213.1:p.Arg24Cys | |
| XM_017022725.2:c.70C>T | XP_016878214.1:p.Arg24Cys | |
| XM_024450103.1:c.70C>T | XP_024305871.1:p.Arg24Cys | |
| XM_024450104.1:c.70C>T | XP_024305872.1:p.Arg24Cys | |
| XM_024450105.1:c.70C>T | XP_024305873.1:p.Arg24Cys | |
| XM_024450106.1:c.70C>T | XP_024305874.1:p.Arg24Cys | |
| NM_004727.3:c.70C>T MANE Select | NP_004718.1:p.Arg24Cys | |
| NM_001301033.2:c.70C>T | NP_001287962.1:p.Arg24Cys |