Linked Data
ClinVar Variation Id:
525500
dbSNP Id:
rs145469545
ExAC:
16:84211348 C / T
gnomAD v2:
16-84211348-C-T
gnomAD v3:
16-84177742-C-T
gnomAD v4:
16-84177742-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84177742C>T , CM000678.2:g.84177742C>T | GRCh38 |
| NC_000016.9:g.84211348C>T , CM000678.1:g.84211348C>T | GRCh37 |
| NC_000016.8:g.82768849C>T | NCBI36 |
| NG_021174.1:g.37484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378553.10:c.2079C>T MANE Select | ENSP00000367815.5:p.Ser693= | |
| ENST00000378553.9:c.2079C>T | ENSP00000367815.5:p.Ser693= | |
| ENST00000562024.1:n.551C>T | ||
| ENST00000563818.5:n.1756C>T | ||
| ENST00000564928.1:c.160-648C>T | ||
| ENST00000569735.1:c.474C>T | ENSP00000454960.1:p.Ser158= | |
| ENST00000570298.5:n.4532C>T | ||
| ENST00000623406.1:n.2515C>T | ||
| NM_178452.4:c.2079C>T | NP_848547.4:p.Ser693= | |
| XM_006721129.1:c.2085C>T | XP_006721192.1:p.Ser695= | |
| XM_011522850.1:c.2361C>T | XP_011521152.1:p.Ser787= | |
| XM_011522851.1:c.2355C>T | XP_011521153.1:p.Ser785= | |
| XM_011522852.1:c.2313C>T | XP_011521154.1:p.Ser771= | |
| XM_011522853.1:c.2220C>T | XP_011521155.1:p.Ser740= | |
| XM_011522854.1:c.2133C>T | XP_011521156.1:p.Ser711= | |
| XM_011522855.1:c.2127C>T | XP_011521157.1:p.Ser709= | |
| XM_011522856.1:c.2100C>T | XP_011521158.1:p.Ser700= | |
| XM_011522859.1:c.1605C>T | XP_011521161.1:p.Ser535= | |
| XM_011522860.1:c.1371C>T | XP_011521162.1:p.Ser457= | |
| NM_001318756.1:c.1371C>T | NP_001305685.1:p.Ser457= | |
| NM_178452.5:c.2079C>T | NP_848547.4:p.Ser693= | |
| XM_006721129.3:c.2085C>T | XP_006721192.1:p.Ser695= | |
| XM_011522853.3:c.2220C>T | XP_011521155.1:p.Ser740= | |
| XM_011522854.3:c.2133C>T | XP_011521156.1:p.Ser711= | |
| XM_011522855.3:c.2127C>T | XP_011521157.1:p.Ser709= | |
| XM_017022918.2:c.2172C>T | XP_016878407.1:p.Ser724= | |
| XM_017022919.1:c.1959C>T | XP_016878408.1:p.Ser653= | |
| XM_017022920.2:c.1464C>T | XP_016878409.1:p.Ser488= | |
| XM_017022921.2:c.1416C>T | XP_016878410.1:p.Ser472= | |
| XM_017022922.2:c.1323C>T | XP_016878411.1:p.Ser441= | |
| XR_001751829.2:n.2790C>T | ||
| XR_001751830.2:n.2784C>T | ||
| XR_001751831.2:n.2736C>T | ||
| XR_001751832.1:n.5338C>T | ||
| NM_178452.6:c.2079C>T MANE Select | NP_848547.4:p.Ser693= |