Linked Data
dbSNP Id:
rs17011455
gnomAD v2:
2-75790489-T-C
gnomAD v3:
2-75563363-T-C
gnomAD v4:
2-75563363-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.75563363T>C , CM000664.2:g.75563363T>C | GRCh38 |
| NC_000002.11:g.75790489T>C , CM000664.1:g.75790489T>C | GRCh37 |
| NC_000002.10:g.75643997T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233712.5:c.-192+6113A>G | ENSP00000233712.1:n.-192+6113A>G | |
| ENST00000486696.1:n.223+6113A>G | ||
| NM_032181.2:c.-192+6113A>G | NP_115557.1:n.-192+6113A>G | |
| NM_032181.3:c.-192+6113A>G | NP_115557.1:n.-192+6113A>G |