Linked Data
ClinVar Variation Id:
1773341
ClinVar RCV Id:
RCV002396915
dbSNP Id:
rs1940960275
gnomAD v3:
12-51920851-A-G
gnomAD v4:
12-51920851-A-G
MyVariant Identifiers:
chr12:g.52314635A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51920851A>G , CM000674.2:g.51920851A>G | GRCh38 |
| NC_000012.11:g.52314635A>G , CM000674.1:g.52314635A>G | GRCh37 |
| NC_000012.10:g.50600902A>G | NCBI36 |
| NG_009549.1:g.18434A>G , LRG_543:g.18434A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.1200A>G | ENSP00000446724.2:p.Gln400= | |
| ENST00000551576.6:c.1470A>G | ENSP00000455848.2:p.Gln490= | |
| ENST00000388922.9:c.1470A>G MANE Select | ENSP00000373574.4:p.Gln490= | |
| ENST00000388922.8:c.1470A>G | ENSP00000373574.4:p.Gln490= | |
| ENST00000419526.6:c.948A>G | ENSP00000392492.2:p.Gln316= | |
| ENST00000550683.5:c.1512A>G | ENSP00000447884.1:p.Gln504= | |
| NM_000020.2:c.1470A>G , LRG_543t1:c.1470A>G | NP_000011.2:p.Gln490= | |
| NM_001077401.1:c.1470A>G | NP_001070869.1:p.Gln490= | |
| XM_005269235.2:c.1470A>G | XP_005269292.1:p.Gln490= | |
| XM_011539008.1:c.1200A>G | XP_011537310.1:p.Gln400= | |
| XM_024449279.1:c.681A>G | XP_024305047.1:p.Gln227= | |
| NM_000020.3:c.1470A>G MANE Select | NP_000011.2:p.Gln490= | |
| NM_001077401.2:c.1470A>G | NP_001070869.1:p.Gln490= |