Linked Data
dbSNP Id:
rs2236824
gnomAD v2:
1-19032272-G-A
gnomAD v3:
1-18705778-G-A
gnomAD v4:
1-18705778-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.18705778G>A , CM000663.2:g.18705778G>A | GRCh38 |
| NC_000001.10:g.19032272G>A , CM000663.1:g.19032272G>A | GRCh37 |
| NC_000001.9:g.18904859G>A | NCBI36 |
| NG_023262.1:g.79773G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420770.7:c.1155+2482G>A MANE Select | ENSP00000403389.2:n.1155+2482G>A | |
| ENST00000375375.7:c.1155+2482G>A | ENSP00000364524.3:n.1155+2482G>A | |
| ENST00000400661.3:c.1149+2482G>A | ENSP00000383502.3:n.1149+2482G>A | |
| ENST00000420770.6:c.1155+2482G>A | ENSP00000403389.2:n.1155+2482G>A | |
| NM_001135254.1:c.1155+2482G>A | NP_001128726.1:n.1155+2482G>A | |
| NM_002584.2:c.1155+2482G>A | NP_002575.1:n.1155+2482G>A | |
| NM_013945.2:c.1149+2482G>A | NP_039236.1:n.1149+2482G>A | |
| NM_001135254.2:c.1155+2482G>A MANE Select | NP_001128726.1:n.1155+2482G>A | |
| NM_002584.3:c.1155+2482G>A | NP_002575.1:n.1155+2482G>A | |
| NM_013945.3:c.1149+2482G>A | NP_039236.1:n.1149+2482G>A |