Linked Data
dbSNP Id:
rs757494146
ExAC:
15:75047452 C / T
gnomAD v2:
15-75047452-C-T
gnomAD v4:
15-74755111-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74755111C>T , CM000677.2:g.74755111C>T | GRCh38 |
| NC_000015.9:g.75047452C>T , CM000677.1:g.75047452C>T | GRCh37 |
| NC_000015.8:g.72834505C>T | NCBI36 |
| NG_008431.1:g.37570C>T | |
| NG_008431.2:g.37570C>T | |
| NG_061543.1:g.11267C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.*23C>T MANE Select | ENSP00000342007.4:n.*23C>T | |
| ENST00000343932.4:c.*23C>T | ENSP00000342007.4:n.*23C>T | |
| NM_000761.4:c.*23C>T | NP_000752.2:n.*23C>T | |
| NM_000761.5:c.*23C>T MANE Select | NP_000752.2:n.*23C>T |