Linked Data
ClinVar Variation Id:
410278
ClinVar RCV Id:
RCV000468722
dbSNP Id:
rs1060502829
gnomAD v4:
16-84149072-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84149072C>T , CM000678.2:g.84149072C>T | GRCh38 |
| NC_000016.9:g.84182677C>T , CM000678.1:g.84182677C>T | GRCh37 |
| NC_000016.8:g.82740178C>T | NCBI36 |
| NG_021174.1:g.8813C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378553.10:c.190C>T MANE Select | ENSP00000367815.5:p.Gln64Ter | |
| ENST00000378553.9:c.190C>T | ENSP00000367815.5:p.Gln64Ter | |
| ENST00000563093.5:c.190C>T | ENSP00000457373.1:p.Gln64Ter | |
| ENST00000567918.5:c.190C>T | ENSP00000455154.1:p.Gln64Ter | |
| ENST00000570298.5:n.344C>T | ||
| NM_178452.4:c.190C>T | NP_848547.4:p.Gln64Ter | |
| XM_006721129.1:c.190C>T | XP_006721192.1:p.Gln64Ter | |
| XM_011522850.1:c.190C>T | XP_011521152.1:p.Gln64Ter | |
| XM_011522851.1:c.190C>T | XP_011521153.1:p.Gln64Ter | |
| XM_011522852.1:c.190C>T | XP_011521154.1:p.Gln64Ter | |
| XM_011522853.1:c.190C>T | XP_011521155.1:p.Gln64Ter | |
| XM_011522854.1:c.190C>T | XP_011521156.1:p.Gln64Ter | |
| XM_011522855.1:c.190C>T | XP_011521157.1:p.Gln64Ter | |
| XM_011522856.1:c.-72C>T | XP_011521158.1:n.-72C>T | |
| XM_011522857.1:c.190C>T | XP_011521159.1:p.Gln64Ter | |
| XM_011522858.1:c.190C>T | XP_011521160.1:p.Gln64Ter | |
| NM_178452.5:c.190C>T | NP_848547.4:p.Gln64Ter | |
| XM_006721129.3:c.190C>T | XP_006721192.1:p.Gln64Ter | |
| XM_011522853.3:c.190C>T | XP_011521155.1:p.Gln64Ter | |
| XM_011522854.3:c.190C>T | XP_011521156.1:p.Gln64Ter | |
| XM_011522855.3:c.190C>T | XP_011521157.1:p.Gln64Ter | |
| XM_011522857.3:c.190C>T | XP_011521159.1:p.Gln64Ter | |
| XM_011522858.3:c.190C>T | XP_011521160.1:p.Gln64Ter | |
| XM_017022918.2:c.190C>T | XP_016878407.1:p.Gln64Ter | |
| XM_017022919.1:c.-72C>T | XP_016878408.1:n.-72C>T | |
| XR_001751829.2:n.364C>T | ||
| XR_001751830.2:n.364C>T | ||
| XR_001751831.2:n.364C>T | ||
| XR_001751832.1:n.673C>T | ||
| NM_178452.6:c.190C>T MANE Select | NP_848547.4:p.Gln64Ter |