Linked Data
dbSNP Id:
rs1293165662
gnomAD v2:
16-2365249-A-C
gnomAD v3:
16-2315248-A-C
gnomAD v4:
16-2315248-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2315248A>C , CM000678.2:g.2315248A>C | GRCh38 |
| NC_000016.9:g.2365249A>C , CM000678.1:g.2365249A>C | GRCh37 |
| NC_000016.8:g.2305250A>C | NCBI36 |
| NG_011790.1:g.30499T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.1111+2035T>G MANE Select | ENSP00000301732.5:n.1111+2035T>G | |
| ENST00000301732.9:c.1111+2035T>G | ENSP00000301732.5:n.1111+2035T>G | |
| ENST00000382381.7:c.1111+2035T>G | ENSP00000371818.3:n.1111+2035T>G | |
| ENST00000563623.5:n.1674+2035T>G | ||
| NM_001089.2:c.1111+2035T>G | NP_001080.2:n.1111+2035T>G | |
| NM_001089.3:c.1111+2035T>G MANE Select | NP_001080.2:n.1111+2035T>G |