Linked Data
ClinVar Variation Id:
2406584
ClinVar RCV Id:
RCV004239771
dbSNP Id:
rs199807759
ExAC:
21:47969787 C / T
gnomAD v2:
21-47969787-C-T
gnomAD v3:
21-46549874-C-T
gnomAD v4:
21-46549874-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46549874C>T , CM000683.2:g.46549874C>T | GRCh38 |
| NC_000021.8:g.47969787C>T , CM000683.1:g.47969787C>T | GRCh37 |
| NC_000021.7:g.46794215C>T | NCBI36 |
| NG_015996.1:g.95926C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417564.3:c.2626C>T MANE Select | ENSP00000392066.2:p.Arg876Cys | |
| ENST00000651436.1:c.2626C>T | ENSP00000498874.1:p.Arg876Cys | |
| ENST00000400274.5:c.2614C>T | ENSP00000383133.1:p.Arg872Cys | |
| ENST00000417564.2:c.2626C>T | ENSP00000392066.2:p.Arg876Cys | |
| ENST00000457905.7:c.2626C>T | ENSP00000393434.3:p.Arg876Cys | |
| NM_001146116.1:c.2614C>T | NP_001139588.1:p.Arg872Cys | |
| NM_015151.3:c.2626C>T | NP_055966.2:p.Arg876Cys | |
| NM_206889.2:c.2626C>T | NP_996772.1:p.Arg876Cys | |
| XM_011529488.1:c.2734C>T | XP_011527790.1:p.Arg912Cys | |
| XM_011529489.1:c.2734C>T | XP_011527791.1:p.Arg912Cys | |
| XM_011529490.1:c.2734C>T | XP_011527792.1:p.Arg912Cys | |
| XM_011529491.1:c.2731C>T | XP_011527793.1:p.Arg911Cys | |
| XM_011529492.1:c.2734C>T | XP_011527794.1:p.Arg912Cys | |
| XM_011529493.1:c.2629C>T | XP_011527795.1:p.Arg877Cys | |
| XM_011529494.1:c.2626C>T | XP_011527796.1:p.Arg876Cys | |
| XM_011529495.1:c.2602C>T | XP_011527797.1:p.Arg868Cys | |
| XM_011529496.1:c.2479C>T | XP_011527798.1:p.Arg827Cys | |
| XM_011529497.1:c.2734C>T | XP_011527799.1:p.Arg912Cys | |
| XM_011529498.1:c.2734C>T | XP_011527800.1:p.Arg912Cys | |
| XM_011529499.1:c.2734C>T | XP_011527801.1:p.Arg912Cys | |
| XM_011529500.1:c.2734C>T | XP_011527802.1:p.Arg912Cys | |
| XM_011529501.1:c.2734C>T | XP_011527803.1:p.Arg912Cys | |
| XM_011529502.1:c.*84C>T | XP_011527804.1:n.*84C>T | |
| NM_001353942.1:c.2629C>T | NP_001340871.1:p.Arg877Cys | |
| NM_001353943.1:c.2626C>T | NP_001340872.1:p.Arg876Cys | |
| XM_011529492.2:c.2734C>T | XP_011527794.1:p.Arg912Cys | |
| XM_017028291.1:c.2734C>T | XP_016883780.1:p.Arg912Cys | |
| XM_017028292.1:c.2734C>T | XP_016883781.1:p.Arg912Cys | |
| XM_017028293.1:c.2731C>T | XP_016883782.1:p.Arg911Cys | |
| XM_017028294.2:c.2629C>T | XP_016883783.1:p.Arg877Cys | |
| XM_017028295.2:c.2626C>T | XP_016883784.1:p.Arg876Cys | |
| XM_017028297.1:c.2602C>T | XP_016883786.1:p.Arg868Cys | |
| XM_017028298.2:c.2497C>T | XP_016883787.1:p.Arg833Cys | |
| XM_017028299.1:c.2479C>T | XP_016883788.1:p.Arg827Cys | |
| XM_017028300.1:c.2734C>T | XP_016883789.1:p.Arg912Cys | |
| XM_017028301.1:c.2734C>T | XP_016883790.1:p.Arg912Cys | |
| XM_017028302.2:c.2374C>T | XP_016883791.1:p.Arg792Cys | |
| XM_017028303.1:c.2734C>T | XP_016883792.1:p.Arg912Cys | |
| XM_017028304.1:c.2734C>T | XP_016883793.1:p.Arg912Cys | |
| XM_017028305.1:c.*84C>T | XP_016883794.1:n.*84C>T | |
| NM_015151.4:c.2626C>T MANE Select | NP_055966.2:p.Arg876Cys | |
| NM_206889.3:c.2626C>T | NP_996772.1:p.Arg876Cys | |
| NM_001146116.2:c.2614C>T | NP_001139588.1:p.Arg872Cys | |
| NM_001353942.2:c.2629C>T | NP_001340871.1:p.Arg877Cys | |
| NM_001353943.2:c.2626C>T | NP_001340872.1:p.Arg876Cys |