Linked Data
ClinVar Variation Id:
2452811
gnomAD v4:
12-51915367-C-T
MyVariant Identifiers:
chr12:g.52309151C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51915367C>T , CM000674.2:g.51915367C>T | GRCh38 |
| NC_000012.11:g.52309151C>T , CM000674.1:g.52309151C>T | GRCh37 |
| NC_000012.10:g.50595418C>T | NCBI36 |
| NG_009549.1:g.12950C>T , LRG_543:g.12950C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.645C>T | ENSP00000446724.2:p.Ser215= | |
| ENST00000551576.6:c.915C>T | ENSP00000455848.2:p.Ser305= | |
| ENST00000552678.2:c.915C>T | ENSP00000457394.2:p.Ser305= | |
| ENST00000388922.9:c.915C>T MANE Select | ENSP00000373574.4:p.Ser305= | |
| ENST00000388922.8:c.915C>T | ENSP00000373574.4:p.Ser305= | |
| ENST00000419526.6:c.393C>T | ENSP00000392492.2:p.Ser131= | |
| ENST00000550683.5:c.957C>T | ENSP00000447884.1:p.Ser319= | |
| NM_000020.2:c.915C>T , LRG_543t1:c.915C>T | NP_000011.2:p.Ser305= | |
| NM_001077401.1:c.915C>T | NP_001070869.1:p.Ser305= | |
| XM_005269235.2:c.915C>T | XP_005269292.1:p.Ser305= | |
| XM_011539008.1:c.645C>T | XP_011537310.1:p.Ser215= | |
| XM_024449279.1:c.126C>T | XP_024305047.1:p.Ser42= | |
| NM_000020.3:c.915C>T MANE Select | NP_000011.2:p.Ser305= | |
| NM_001077401.2:c.915C>T | NP_001070869.1:p.Ser305= |