Linked Data
ClinVar Variation Id:
309472
ClinVar RCV Id:
RCV000319545
dbSNP Id:
rs886049618
gnomAD v2:
12-52316339-A-T
gnomAD v3:
12-51922555-A-T
gnomAD v4:
12-51922555-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51922555A>T , CM000674.2:g.51922555A>T | GRCh38 |
| NC_000012.11:g.52316339A>T , CM000674.1:g.52316339A>T | GRCh37 |
| NC_000012.10:g.50602606A>T | NCBI36 |
| NG_009549.1:g.20138A>T , LRG_543:g.20138A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000551576.6:c.*1662A>T | ENSP00000455848.2:n.*1662A>T | |
| ENST00000388922.9:c.*1662A>T MANE Select | ENSP00000373574.4:n.*1662A>T | |
| ENST00000550084.1:n.177-585A>T | ||
| ENST00000550683.5:c.*1662A>T | ENSP00000447884.1:n.*1662A>T | |
| NM_000020.2:c.*1662A>T , LRG_543t1:c.*1662A>T | NP_000011.2:n.*1662A>T | |
| NM_001077401.1:c.*1662A>T | NP_001070869.1:n.*1662A>T | |
| XM_005269235.2:c.*1662A>T | XP_005269292.1:n.*1662A>T | |
| XM_011539008.1:c.*1662A>T | XP_011537310.1:n.*1662A>T | |
| XM_024449279.1:c.*1662A>T | XP_024305047.1:n.*1662A>T | |
| NM_000020.3:c.*1662A>T MANE Select | NP_000011.2:n.*1662A>T | |
| NM_001077401.2:c.*1662A>T | NP_001070869.1:n.*1662A>T |