Linked Data
dbSNP Id:
rs1463075596
gnomAD v2:
1-153963350-G-A
gnomAD v3:
1-153990874-G-A
gnomAD v4:
1-153990874-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153990874G>A , CM000663.2:g.153990874G>A | GRCh38 |
| NC_000001.10:g.153963350G>A , CM000663.1:g.153963350G>A | GRCh37 |
| NC_000001.9:g.152229974G>A | NCBI36 |
| NG_053102.2:g.5120G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643794.1:c.7-40G>A | ENSP00000495765.1:n.7-40G>A | |
| ENST00000651669.1:c.6+72G>A MANE Select | ENSP00000499044.1:n.6+72G>A | |
| ENST00000368567.4:c.6+72G>A | ENSP00000357555.4:n.6+72G>A | |
| ENST00000392558.4:c.6+72G>A | ENSP00000376341.4:n.6+72G>A | |
| ENST00000477151.1:n.41-40G>A | ||
| ENST00000493224.5:n.112G>A | ||
| NM_001030.4:c.6+72G>A | NP_001021.1:n.6+72G>A | |
| NM_001030.6:c.6+72G>A MANE Select | NP_001021.1:n.6+72G>A | |
| NM_001349946.1:c.-211-40G>A | NP_001336875.1:n.-211-40G>A | |
| NM_001349947.1:c.-251G>A | NP_001336876.1:n.-251G>A | |
| NM_001349946.2:c.-211-40G>A | NP_001336875.1:n.-211-40G>A | |
| NM_001349947.2:c.-251G>A | NP_001336876.1:n.-251G>A |