Linked Data
dbSNP Id:
rs1555153131
gnomAD v4:
12-51915376-C-T
MyVariant Identifiers:
chr12:g.52309160C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51915376C>T , CM000674.2:g.51915376C>T | GRCh38 |
| NC_000012.11:g.52309160C>T , CM000674.1:g.52309160C>T | GRCh37 |
| NC_000012.10:g.50595427C>T | NCBI36 |
| NG_009549.1:g.12959C>T , LRG_543:g.12959C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.654C>T | ENSP00000446724.2:p.Cys218= | |
| ENST00000551576.6:c.924C>T | ENSP00000455848.2:p.Cys308= | |
| ENST00000552678.2:c.924C>T | ENSP00000457394.2:p.Cys308= | |
| ENST00000388922.9:c.924C>T MANE Select | ENSP00000373574.4:p.Cys308= | |
| ENST00000388922.8:c.924C>T | ENSP00000373574.4:p.Cys308= | |
| ENST00000419526.6:c.402C>T | ENSP00000392492.2:p.Cys134= | |
| ENST00000550683.5:c.966C>T | ENSP00000447884.1:p.Cys322= | |
| NM_000020.2:c.924C>T , LRG_543t1:c.924C>T | NP_000011.2:p.Cys308= | |
| NM_001077401.1:c.924C>T | NP_001070869.1:p.Cys308= | |
| XM_005269235.2:c.924C>T | XP_005269292.1:p.Cys308= | |
| XM_011539008.1:c.654C>T | XP_011537310.1:p.Cys218= | |
| XM_024449279.1:c.135C>T | XP_024305047.1:p.Cys45= | |
| NM_000020.3:c.924C>T MANE Select | NP_000011.2:p.Cys308= | |
| NM_001077401.2:c.924C>T | NP_001070869.1:p.Cys308= |