Linked Data
ClinVar Variation Id:
294275
dbSNP Id:
rs138776748
ExAC:
1:186115009 C / T
gnomAD v2:
1-186115009-C-T
gnomAD v3:
1-186145877-C-T
gnomAD v4:
1-186145877-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186145877C>T , CM000663.2:g.186145877C>T | GRCh38 |
| NC_000001.10:g.186115009C>T , CM000663.1:g.186115009C>T | GRCh37 |
| NC_000001.9:g.184381632C>T | NCBI36 |
| NG_011841.1:g.416327C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.14562C>T MANE Select | ENSP00000271588.4:p.Pro4854= | |
| ENST00000271588.8:c.14562C>T | ENSP00000271588.4:p.Pro4854= | |
| NM_031935.2:c.14562C>T | NP_114141.2:p.Pro4854= | |
| XM_011510037.1:c.14277C>T | XP_011508339.1:p.Pro4759= | |
| XM_011510038.1:c.14562C>T | XP_011508340.1:p.Pro4854= | |
| XM_011510038.3:c.14562C>T | XP_011508340.1:p.Pro4854= | |
| XM_017002437.1:c.12585C>T | XP_016857926.1:p.Pro4195= | |
| NM_031935.3:c.14562C>T MANE Select | NP_114141.2:p.Pro4854= |