Linked Data
ClinVar Variation Id:
572085
dbSNP Id:
rs1439294840
gnomAD v2:
12-52307029-G-A
gnomAD v4:
12-51913245-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51913245G>A , CM000674.2:g.51913245G>A | GRCh38 |
| NC_000012.11:g.52307029G>A , CM000674.1:g.52307029G>A | GRCh37 |
| NC_000012.10:g.50593296G>A | NCBI36 |
| NG_009549.1:g.10828G>A , LRG_543:g.10828G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.250G>A | ENSP00000446724.2:p.Gly84Arg | |
| ENST00000551576.6:c.208G>A | ENSP00000455848.2:p.Gly70Arg | |
| ENST00000552678.2:c.208G>A | ENSP00000457394.2:p.Gly70Arg | |
| ENST00000388922.9:c.208G>A MANE Select | ENSP00000373574.4:p.Gly70Arg | |
| ENST00000388922.8:c.208G>A | ENSP00000373574.4:p.Gly70Arg | |
| ENST00000419526.6:c.103+710G>A | ENSP00000392492.2:n.103+710G>A | |
| ENST00000547400.5:c.250G>A | ENSP00000446724.1:p.Gly84Arg | |
| ENST00000550683.5:c.250G>A | ENSP00000447884.1:p.Gly84Arg | |
| ENST00000551576.5:c.208G>A | ENSP00000455848.1:p.Gly70Arg | |
| NM_000020.2:c.208G>A , LRG_543t1:c.208G>A | NP_000011.2:p.Gly70Arg | |
| NM_001077401.1:c.208G>A | NP_001070869.1:p.Gly70Arg | |
| XM_005269235.2:c.208G>A | XP_005269292.1:p.Gly70Arg | |
| XM_011539008.1:c.250G>A | XP_011537310.1:p.Gly84Arg | |
| NM_000020.3:c.208G>A MANE Select | NP_000011.2:p.Gly70Arg | |
| NM_001077401.2:c.208G>A | NP_001070869.1:p.Gly70Arg |