Linked Data
dbSNP Id:
rs779805236
ExAC:
18:12370846 A / G
gnomAD v2:
18-12370846-A-G
gnomAD v3:
18-12370847-A-G
gnomAD v4:
18-12370847-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12370847A>G , CM000680.2:g.12370847A>G | GRCh38 |
| NC_000018.9:g.12370846A>G , CM000680.1:g.12370846A>G | GRCh37 |
| NC_000018.8:g.12360846A>G | NCBI36 |
| NG_023361.1:g.11430T>C , LRG_666:g.11430T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000687337.1:c.292+2T>C | ENSP00000508998.1:n.292+2T>C | |
| ENST00000688199.1:c.292+2T>C | ENSP00000510237.1:n.292+2T>C | |
| ENST00000691179.1:c.292+2T>C | ENSP00000509010.1:n.292+2T>C | |
| ENST00000691970.1:c.292+2T>C | ENSP00000508440.1:n.292+2T>C | |
| ENST00000692497.1:c.292+2T>C | ENSP00000509870.1:n.292+2T>C | |
| ENST00000269143.8:c.292+2T>C MANE Select | ENSP00000269143.2:n.292+2T>C | |
| ENST00000269143.7:c.292+2T>C | ENSP00000269143.2:n.292+2T>C | |
| ENST00000590811.1:c.35-3730T>C | ||
| NM_006796.2:c.292+2T>C , LRG_666t1:c.292+2T>C | NP_006787.2:n.292+2T>C | |
| XM_011525601.1:c.292+2T>C | XP_011523903.1:n.292+2T>C | |
| XM_011525601.3:c.292+2T>C | XP_011523903.1:n.292+2T>C | |
| NM_006796.3:c.292+2T>C MANE Select | NP_006787.2:n.292+2T>C |