Linked Data
ClinVar Variation Id:
439373
dbSNP Id:
rs706816
ExAC:
12:52312964 A / G
gnomAD v2:
12-52312964-A-G
gnomAD v3:
12-51919180-A-G
gnomAD v4:
12-51919180-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51919180A>G , CM000674.2:g.51919180A>G | GRCh38 |
| NC_000012.11:g.52312964A>G , CM000674.1:g.52312964A>G | GRCh37 |
| NC_000012.10:g.50599231A>G | NCBI36 |
| NG_009549.1:g.16763A>G , LRG_543:g.16763A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.1107+65A>G | ENSP00000446724.2:n.1107+65A>G | |
| ENST00000551576.6:c.1377+65A>G | ENSP00000455848.2:n.1377+65A>G | |
| ENST00000552678.2:c.1442A>G | ENSP00000457394.2:p.Gln481Arg | |
| ENST00000388922.9:c.1377+65A>G MANE Select | ENSP00000373574.4:n.1377+65A>G | |
| ENST00000388922.8:c.1377+65A>G | ENSP00000373574.4:n.1377+65A>G | |
| ENST00000419526.6:c.855+65A>G | ENSP00000392492.2:n.855+65A>G | |
| ENST00000547632.1:n.717A>G | ||
| ENST00000550683.5:c.1419+65A>G | ENSP00000447884.1:n.1419+65A>G | |
| ENST00000552678.1:c.447A>G | ||
| NM_000020.2:c.1377+65A>G , LRG_543t1:c.1377+65A>G | NP_000011.2:n.1377+65A>G | |
| NM_001077401.1:c.1377+65A>G | NP_001070869.1:n.1377+65A>G | |
| XM_005269235.2:c.1377+65A>G | XP_005269292.1:n.1377+65A>G | |
| XM_011539008.1:c.1107+65A>G | XP_011537310.1:n.1107+65A>G | |
| XM_024449279.1:c.588+65A>G | XP_024305047.1:n.588+65A>G | |
| NM_000020.3:c.1377+65A>G MANE Select | NP_000011.2:n.1377+65A>G | |
| NM_001077401.2:c.1377+65A>G | NP_001070869.1:n.1377+65A>G |