Linked Data
dbSNP Id:
rs1025439779
gnomAD v2:
15-75041194-A-C
gnomAD v3:
15-74748853-A-C
gnomAD v4:
15-74748853-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74748853A>C , CM000677.2:g.74748853A>C | GRCh38 |
| NC_000015.9:g.75041194A>C , CM000677.1:g.75041194A>C | GRCh37 |
| NC_000015.8:g.72828247A>C | NCBI36 |
| NG_008431.1:g.31312A>C | |
| NG_008431.2:g.31312A>C | |
| NG_061543.1:g.5009A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.-54A>C MANE Select | ENSP00000342007.4:n.-54A>C | |
| ENST00000343932.4:c.-54A>C | ENSP00000342007.4:n.-54A>C | |
| NM_000761.4:c.-54A>C | NP_000752.2:n.-54A>C | |
| NM_000761.5:c.-54A>C MANE Select | NP_000752.2:n.-54A>C |