Linked Data
dbSNP Id:
rs3782181
gnomAD v2:
12-88953561-C-A
gnomAD v3:
12-88559784-C-A
gnomAD v4:
12-88559784-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88559784C>A , CM000674.2:g.88559784C>A | GRCh38 |
| NC_000012.11:g.88953561C>A , CM000674.1:g.88953561C>A | GRCh37 |
| NC_000012.10:g.87477692C>A | NCBI36 |
| NG_012098.1:g.25678G>T | |
| NG_012098.2:g.25678G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347404.10:c.16-13919G>T | ENSP00000054216.5:n.16-13919G>T | |
| ENST00000644744.1:c.16-13919G>T MANE Select | ENSP00000495951.1:n.16-13919G>T | |
| ENST00000646633.1:c.*17-13919G>T | ENSP00000494139.1:n.*17-13919G>T | |
| ENST00000228280.9:c.16-13919G>T | ENSP00000228280.5:n.16-13919G>T | |
| ENST00000347404.9:c.16-13919G>T | ENSP00000054216.5:n.16-13919G>T | |
| ENST00000357116.4:c.-48+20480G>T | ENSP00000474021.1:n.-48+20480G>T | |
| ENST00000552044.1:c.-139+4424G>T | ENSP00000475042.1:n.-139+4424G>T | |
| NM_000899.4:c.16-13919G>T | NP_000890.1:n.16-13919G>T | |
| NM_003994.5:c.16-13919G>T | NP_003985.2:n.16-13919G>T | |
| NM_000899.5:c.16-13919G>T MANE Select | NP_000890.1:n.16-13919G>T | |
| NM_003994.6:c.16-13919G>T | NP_003985.2:n.16-13919G>T |