Linked Data
ClinVar Variation Id:
784866
dbSNP Id:
rs200320649
ExAC:
12:52309022 A / G
gnomAD v2:
12-52309022-A-G
gnomAD v3:
12-51915238-A-G
gnomAD v4:
12-51915238-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51915238A>G , CM000674.2:g.51915238A>G | GRCh38 |
| NC_000012.11:g.52309022A>G , CM000674.1:g.52309022A>G | GRCh37 |
| NC_000012.10:g.50595289A>G | NCBI36 |
| NG_009549.1:g.12821A>G , LRG_543:g.12821A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.516A>G | ENSP00000446724.2:p.Ser172= | |
| ENST00000551576.6:c.786A>G | ENSP00000455848.2:p.Ser262= | |
| ENST00000552678.2:c.786A>G | ENSP00000457394.2:p.Ser262= | |
| ENST00000388922.9:c.786A>G MANE Select | ENSP00000373574.4:p.Ser262= | |
| ENST00000388922.8:c.786A>G | ENSP00000373574.4:p.Ser262= | |
| ENST00000419526.6:c.264A>G | ENSP00000392492.2:p.Ser88= | |
| ENST00000550683.5:c.828A>G | ENSP00000447884.1:p.Ser276= | |
| NM_000020.2:c.786A>G , LRG_543t1:c.786A>G | NP_000011.2:p.Ser262= | |
| NM_001077401.1:c.786A>G | NP_001070869.1:p.Ser262= | |
| XM_005269235.2:c.786A>G | XP_005269292.1:p.Ser262= | |
| XM_011539008.1:c.516A>G | XP_011537310.1:p.Ser172= | |
| XM_024449279.1:c.-4A>G | XP_024305047.1:n.-4A>G | |
| NM_000020.3:c.786A>G MANE Select | NP_000011.2:p.Ser262= | |
| NM_001077401.2:c.786A>G | NP_001070869.1:p.Ser262= |