Linked Data
ClinVar Variation Id:
1155293
dbSNP Id:
rs145405273
ExAC:
8:19805707 C / T
gnomAD v2:
8-19805707-C-T
gnomAD v3:
8-19948196-C-T
gnomAD v4:
8-19948196-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19948196C>T , CM000670.2:g.19948196C>T | GRCh38 |
| NC_000008.10:g.19805707C>T , CM000670.1:g.19805707C>T | GRCh37 |
| NC_000008.9:g.19849987C>T | NCBI36 |
| NG_008855.1:g.14126C>T | |
| NG_008855.2:g.51480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.105C>T MANE Select | ENSP00000497642.1:p.Ile35= | |
| ENST00000311322.8:c.105C>T | ENSP00000309757.6:p.Ile35= | |
| ENST00000519773.1:c.*142C>T | ENSP00000431028.1:n.*142C>T | |
| ENST00000520959.5:c.-124C>T | ENSP00000428496.1:n.-124C>T | |
| ENST00000521994.1:n.290C>T | ||
| ENST00000522701.5:c.105C>T | ENSP00000428557.1:p.Ile35= | |
| ENST00000523696.1:n.174C>T | ||
| ENST00000524029.5:c.105C>T | ENSP00000428237.1:p.Ile35= | |
| NM_000237.2:c.105C>T | NP_000228.1:p.Ile35= | |
| NM_000237.3:c.105C>T MANE Select | NP_000228.1:p.Ile35= |