Linked Data
ClinVar Variation Id:
242161
dbSNP Id:
rs769877978
ExAC:
16:84211351 C / T
gnomAD v2:
16-84211351-C-T
gnomAD v3:
16-84177745-C-T
gnomAD v4:
16-84177745-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84177745C>T , CM000678.2:g.84177745C>T | GRCh38 |
| NC_000016.9:g.84211351C>T , CM000678.1:g.84211351C>T | GRCh37 |
| NC_000016.8:g.82768852C>T | NCBI36 |
| NG_021174.1:g.37487C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378553.10:c.2082C>T MANE Select | ENSP00000367815.5:p.Ala694= | |
| ENST00000378553.9:c.2082C>T | ENSP00000367815.5:p.Ala694= | |
| ENST00000562024.1:n.554C>T | ||
| ENST00000563818.5:n.1759C>T | ||
| ENST00000564928.1:c.160-645C>T | ||
| ENST00000569735.1:c.477C>T | ENSP00000454960.1:p.Ala159= | |
| ENST00000570298.5:n.4535C>T | ||
| ENST00000623406.1:n.2518C>T | ||
| NM_178452.4:c.2082C>T | NP_848547.4:p.Ala694= | |
| XM_006721129.1:c.2088C>T | XP_006721192.1:p.Ala696= | |
| XM_011522850.1:c.2364C>T | XP_011521152.1:p.Ala788= | |
| XM_011522851.1:c.2358C>T | XP_011521153.1:p.Ala786= | |
| XM_011522852.1:c.2316C>T | XP_011521154.1:p.Ala772= | |
| XM_011522853.1:c.2223C>T | XP_011521155.1:p.Ala741= | |
| XM_011522854.1:c.2136C>T | XP_011521156.1:p.Ala712= | |
| XM_011522855.1:c.2130C>T | XP_011521157.1:p.Ala710= | |
| XM_011522856.1:c.2103C>T | XP_011521158.1:p.Ala701= | |
| XM_011522859.1:c.1608C>T | XP_011521161.1:p.Ala536= | |
| XM_011522860.1:c.1374C>T | XP_011521162.1:p.Ala458= | |
| NM_001318756.1:c.1374C>T | NP_001305685.1:p.Ala458= | |
| NM_178452.5:c.2082C>T | NP_848547.4:p.Ala694= | |
| XM_006721129.3:c.2088C>T | XP_006721192.1:p.Ala696= | |
| XM_011522853.3:c.2223C>T | XP_011521155.1:p.Ala741= | |
| XM_011522854.3:c.2136C>T | XP_011521156.1:p.Ala712= | |
| XM_011522855.3:c.2130C>T | XP_011521157.1:p.Ala710= | |
| XM_017022918.2:c.2175C>T | XP_016878407.1:p.Ala725= | |
| XM_017022919.1:c.1962C>T | XP_016878408.1:p.Ala654= | |
| XM_017022920.2:c.1467C>T | XP_016878409.1:p.Ala489= | |
| XM_017022921.2:c.1419C>T | XP_016878410.1:p.Ala473= | |
| XM_017022922.2:c.1326C>T | XP_016878411.1:p.Ala442= | |
| XR_001751829.2:n.2793C>T | ||
| XR_001751830.2:n.2787C>T | ||
| XR_001751831.2:n.2739C>T | ||
| XR_001751832.1:n.5341C>T | ||
| NM_178452.6:c.2082C>T MANE Select | NP_848547.4:p.Ala694= |