Linked Data
ClinVar Variation Id:
426016
ClinVar RCV Id:
RCV000488626
dbSNP Id:
rs1085307408
PubMed:
PMID:26387786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51915240A>G , CM000674.2:g.51915240A>G | GRCh38 |
| NC_000012.11:g.52309024A>G , CM000674.1:g.52309024A>G | GRCh37 |
| NC_000012.10:g.50595291A>G | NCBI36 |
| NG_009549.1:g.12823A>G , LRG_543:g.12823A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.518A>G | ENSP00000446724.2:p.Asp173Gly | |
| ENST00000551576.6:c.788A>G | ENSP00000455848.2:p.Asp263Gly | |
| ENST00000552678.2:c.788A>G | ENSP00000457394.2:p.Asp263Gly | |
| ENST00000388922.9:c.788A>G MANE Select | ENSP00000373574.4:p.Asp263Gly | |
| ENST00000388922.8:c.788A>G | ENSP00000373574.4:p.Asp263Gly | |
| ENST00000419526.6:c.266A>G | ENSP00000392492.2:p.Asp89Gly | |
| ENST00000550683.5:c.830A>G | ENSP00000447884.1:p.Asp277Gly | |
| NM_000020.2:c.788A>G , LRG_543t1:c.788A>G | NP_000011.2:p.Asp263Gly | |
| NM_001077401.1:c.788A>G | NP_001070869.1:p.Asp263Gly | |
| XM_005269235.2:c.788A>G | XP_005269292.1:p.Asp263Gly | |
| XM_011539008.1:c.518A>G | XP_011537310.1:p.Asp173Gly | |
| XM_024449279.1:c.-2A>G | XP_024305047.1:n.-2A>G | |
| NM_000020.3:c.788A>G MANE Select | NP_000011.2:p.Asp263Gly | |
| NM_001077401.2:c.788A>G | NP_001070869.1:p.Asp263Gly |