Linked Data
ClinVar Variation Id:
227313
dbSNP Id:
rs147393144
ExAC:
16:84209828 C / T
gnomAD v2:
16-84209828-C-T
gnomAD v3:
16-84176222-C-T
gnomAD v4:
16-84176222-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84176222C>T , CM000678.2:g.84176222C>T | GRCh38 |
| NC_000016.9:g.84209828C>T , CM000678.1:g.84209828C>T | GRCh37 |
| NC_000016.8:g.82767329C>T | NCBI36 |
| NG_021174.1:g.35964C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378553.10:c.1988C>T MANE Select | ENSP00000367815.5:p.Pro663Leu | |
| ENST00000378553.9:c.1988C>T | ENSP00000367815.5:p.Pro663Leu | |
| ENST00000562024.1:n.460C>T | ||
| ENST00000563818.5:n.1665C>T | ||
| ENST00000564928.1:c.82C>T | ||
| ENST00000569735.1:c.290C>T | ENSP00000454960.1:p.Pro97Leu | |
| ENST00000570298.5:n.4441C>T | ||
| ENST00000623406.1:n.995C>T | ||
| NM_178452.4:c.1988C>T | NP_848547.4:p.Pro663Leu | |
| XM_006721129.1:c.1994C>T | XP_006721192.1:p.Pro665Leu | |
| XM_011522850.1:c.2270C>T | XP_011521152.1:p.Pro757Leu | |
| XM_011522851.1:c.2264C>T | XP_011521153.1:p.Pro755Leu | |
| XM_011522852.1:c.2222C>T | XP_011521154.1:p.Pro741Leu | |
| XM_011522853.1:c.2036C>T | XP_011521155.1:p.Pro679Leu | |
| XM_011522854.1:c.2042C>T | XP_011521156.1:p.Pro681Leu | |
| XM_011522855.1:c.2036C>T | XP_011521157.1:p.Pro679Leu | |
| XM_011522856.1:c.2009C>T | XP_011521158.1:p.Pro670Leu | |
| XM_011522859.1:c.1514C>T | XP_011521161.1:p.Pro505Leu | |
| XM_011522860.1:c.1280C>T | XP_011521162.1:p.Pro427Leu | |
| NM_001318756.1:c.1280C>T | NP_001305685.1:p.Pro427Leu | |
| NM_178452.5:c.1988C>T | NP_848547.4:p.Pro663Leu | |
| XM_006721129.3:c.1994C>T | XP_006721192.1:p.Pro665Leu | |
| XM_011522853.3:c.2036C>T | XP_011521155.1:p.Pro679Leu | |
| XM_011522854.3:c.2042C>T | XP_011521156.1:p.Pro681Leu | |
| XM_011522855.3:c.2036C>T | XP_011521157.1:p.Pro679Leu | |
| XM_017022918.2:c.1988C>T | XP_016878407.1:p.Pro663Leu | |
| XM_017022919.1:c.1775C>T | XP_016878408.1:p.Pro592Leu | |
| XM_017022920.2:c.1280C>T | XP_016878409.1:p.Pro427Leu | |
| XM_017022921.2:c.1232C>T | XP_016878410.1:p.Pro411Leu | |
| XM_017022922.2:c.1232C>T | XP_016878411.1:p.Pro411Leu | |
| XR_001751829.2:n.2699C>T | ||
| XR_001751830.2:n.2693C>T | ||
| XR_001751831.2:n.2645C>T | ||
| XR_001751832.1:n.5247C>T | ||
| NM_178452.6:c.1988C>T MANE Select | NP_848547.4:p.Pro663Leu |