Linked Data
dbSNP Id:
rs1192710142
gnomAD v2:
12-52314488-T-TCTCTGCATCTCTCTCTCTGCCTCCTCTC
gnomAD v3:
12-51920704-T-TCTCTGCATCTCTCTCTCTGCCTCCTCTC
gnomAD v4:
12-51920704-T-TCTCTGCATCTCTCTCTCTGCCTCCTCTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51920712_51920739dup , CM000674.2:g.51920712_51920739dup | GRCh38 |
| NC_000012.11:g.52314496_52314523dup , CM000674.1:g.52314496_52314523dup | GRCh37 |
| NC_000012.10:g.50600763_50600790dup | NCBI36 |
| NG_009549.1:g.18295_18322dup , LRG_543:g.18295_18322dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.1108-47_1108-20dup | ENSP00000446724.2:n.1108-47_1108-20dup | |
| ENST00000551576.6:c.1378-47_1378-20dup | ENSP00000455848.2:n.1378-47_1378-20dup | |
| ENST00000388922.9:c.1378-47_1378-20dup MANE Select | ENSP00000373574.4:n.1378-47_1378-20dup | |
| ENST00000388922.8:c.1378-47_1378-20dup | ENSP00000373574.4:n.1378-47_1378-20dup | |
| ENST00000419526.6:c.856-47_856-20dup | ENSP00000392492.2:n.856-47_856-20dup | |
| ENST00000550683.5:c.1420-47_1420-20dup | ENSP00000447884.1:n.1420-47_1420-20dup | |
| NM_000020.2:c.1378-47_1378-20dup , LRG_543t1:c.1378-47_1378-20dup | NP_000011.2:n.1378-47_1378-20dup | |
| NM_001077401.1:c.1378-47_1378-20dup | NP_001070869.1:n.1378-47_1378-20dup | |
| XM_005269235.2:c.1378-47_1378-20dup | XP_005269292.1:n.1378-47_1378-20dup | |
| XM_011539008.1:c.1108-47_1108-20dup | XP_011537310.1:n.1108-47_1108-20dup | |
| XM_024449279.1:c.589-47_589-20dup | XP_024305047.1:n.589-47_589-20dup | |
| NM_000020.3:c.1378-47_1378-20dup MANE Select | NP_000011.2:n.1378-47_1378-20dup | |
| NM_001077401.2:c.1378-47_1378-20dup | NP_001070869.1:n.1378-47_1378-20dup |