Linked Data
ClinVar Variation Id:
373609
dbSNP Id:
rs146206499
ExAC:
12:52312870 A / G
gnomAD v2:
12-52312870-A-G
gnomAD v3:
12-51919086-A-G
gnomAD v4:
12-51919086-A-G
ERepo:
CA6573123/MONDO:0010880/135
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51919086A>G , CM000674.2:g.51919086A>G | GRCh38 |
| NC_000012.11:g.52312870A>G , CM000674.1:g.52312870A>G | GRCh37 |
| NC_000012.10:g.50599137A>G | NCBI36 |
| NG_009549.1:g.16669A>G , LRG_543:g.16669A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.1078A>G | ENSP00000446724.2:p.Thr360Ala | |
| ENST00000551576.6:c.1348A>G | ENSP00000455848.2:p.Thr450Ala | |
| ENST00000552678.2:c.1348A>G | ENSP00000457394.2:p.Thr450Ala | |
| ENST00000388922.9:c.1348A>G MANE Select | ENSP00000373574.4:p.Thr450Ala | |
| ENST00000388922.8:c.1348A>G | ENSP00000373574.4:p.Thr450Ala | |
| ENST00000419526.6:c.826A>G | ENSP00000392492.2:p.Thr276Ala | |
| ENST00000547632.1:n.623A>G | ||
| ENST00000550683.5:c.1390A>G | ENSP00000447884.1:p.Thr464Ala | |
| ENST00000552678.1:c.353A>G | ||
| NM_000020.2:c.1348A>G , LRG_543t1:c.1348A>G | NP_000011.2:p.Thr450Ala | |
| NM_001077401.1:c.1348A>G | NP_001070869.1:p.Thr450Ala | |
| XM_005269235.2:c.1348A>G | XP_005269292.1:p.Thr450Ala | |
| XM_011539008.1:c.1078A>G | XP_011537310.1:p.Thr360Ala | |
| XM_024449279.1:c.559A>G | XP_024305047.1:p.Thr187Ala | |
| NM_000020.3:c.1348A>G MANE Select | NP_000011.2:p.Thr450Ala | |
| NM_001077401.2:c.1348A>G | NP_001070869.1:p.Thr450Ala |