Linked Data
ClinVar Variation Id:
136292
dbSNP Id:
rs2277382
ExAC:
12:52306221 C / T
gnomAD v2:
12-52306221-C-T
gnomAD v3:
12-51912437-C-T
gnomAD v4:
12-51912437-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51912437C>T , CM000674.2:g.51912437C>T | GRCh38 |
| NC_000012.11:g.52306221C>T , CM000674.1:g.52306221C>T | GRCh37 |
| NC_000012.10:g.50592488C>T | NCBI36 |
| NG_009549.1:g.10020C>T , LRG_543:g.10020C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.5C>T | ENSP00000446724.2:p.Ala2Val | |
| ENST00000551576.6:c.-5-33C>T | ENSP00000455848.2:n.-5-33C>T | |
| ENST00000552678.2:c.-5-33C>T | ENSP00000457394.2:n.-5-33C>T | |
| ENST00000388922.9:c.-5-33C>T MANE Select | ENSP00000373574.4:n.-5-33C>T | |
| ENST00000388922.8:c.-5-33C>T | ENSP00000373574.4:n.-5-33C>T | |
| ENST00000419526.6:c.5C>T | ENSP00000392492.2:p.Ala2Val | |
| ENST00000547400.5:c.5C>T | ENSP00000446724.1:p.Ala2Val | |
| ENST00000550683.5:c.5C>T | ENSP00000447884.1:p.Ala2Val | |
| ENST00000551576.5:c.-5-33C>T | ENSP00000455848.1:n.-5-33C>T | |
| NM_000020.2:c.-5-33C>T , LRG_543t1:c.-5-33C>T | NP_000011.2:n.-5-33C>T | |
| NM_001077401.1:c.-38C>T | NP_001070869.1:n.-38C>T | |
| XM_005269235.2:c.-5-33C>T | XP_005269292.1:n.-5-33C>T | |
| XM_011539008.1:c.5C>T | XP_011537310.1:p.Ala2Val | |
| NM_000020.3:c.-5-33C>T MANE Select | NP_000011.2:n.-5-33C>T | |
| NM_001077401.2:c.-38C>T | NP_001070869.1:n.-38C>T |