Linked Data
ClinVar Variation Id:
2163529
ClinVar RCV Id:
RCV003073336
dbSNP Id:
rs765827203
gnomAD v4:
12-120997628-C-T
MyVariant Identifiers:
chr12:g.121435431C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120997628C>T , CM000674.2:g.120997628C>T | GRCh38 |
| NC_000012.11:g.121435431C>T , CM000674.1:g.121435431C>T | GRCh37 |
| NC_000012.10:g.119919814C>T | NCBI36 |
| NG_011731.2:g.23883C>T , LRG_522:g.23883C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*211C>T | ENSP00000453965.2:n.*211C>T | |
| ENST00000257555.11:c.1464C>T MANE Select | ENSP00000257555.5:p.Pro488= | |
| ENST00000257555.10:c.1464C>T | ENSP00000257555.4:p.Pro488= | |
| ENST00000400024.6:c.1464C>T | ENSP00000476181.1:p.Pro488= | |
| ENST00000402929.5:n.2330C>T | ||
| ENST00000535955.5:n.180C>T | ||
| ENST00000538626.2:n.328C>T | ||
| ENST00000538646.5:c.*440C>T | ENSP00000443964.1:n.*440C>T | |
| ENST00000540108.1:c.*904C>T | ENSP00000445445.1:n.*904C>T | |
| ENST00000541395.5:c.1464C>T | ENSP00000443112.1:p.Pro488= | |
| ENST00000541924.5:c.*478C>T | ENSP00000440361.1:n.*478C>T | |
| ENST00000543255.1:n.508C>T | ||
| ENST00000543427.5:c.927C>T | ENSP00000439721.2:p.Pro309= | |
| ENST00000544413.2:c.1464C>T | ENSP00000438804.1:p.Pro488= | |
| ENST00000544574.5:c.*227C>T | ENSP00000438565.1:n.*227C>T | |
| ENST00000560968.5:c.1281C>T | ||
| ENST00000615446.4:c.252C>T | ENSP00000483994.1:p.Pro84= | |
| ENST00000617366.4:c.587-6C>T | ENSP00000481967.1:n.587-6C>T | |
| NM_000545.5:c.1464C>T , LRG_522t1:c.1464C>T | NP_000536.5:p.Pro488= | |
| NM_000545.6:c.1464C>T | NP_000536.5:p.Pro488= | |
| NM_001306179.1:c.1464C>T | NP_001293108.1:p.Pro488= | |
| XM_005253931.2:c.1464C>T | XP_005253988.1:p.Pro488= | |
| XM_024449168.1:c.1464C>T | XP_024304936.1:p.Pro488= | |
| NM_000545.8:c.1464C>T MANE Select | NP_000536.6:p.Pro488= | |
| NM_001306179.2:c.1464C>T | NP_001293108.2:p.Pro488= |