Linked Data
dbSNP Id:
rs72547516
ExAC:
15:75044578 A / T
gnomAD v2:
15-75044578-A-T
gnomAD v3:
15-74752237-A-T
gnomAD v4:
15-74752237-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74752237A>T , CM000677.2:g.74752237A>T | GRCh38 |
| NC_000015.9:g.75044578A>T , CM000677.1:g.75044578A>T | GRCh37 |
| NC_000015.8:g.72831631A>T | NCBI36 |
| NG_008431.1:g.34696A>T | |
| NG_008431.2:g.34696A>T | |
| NG_061543.1:g.8393A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.1156A>T MANE Select | ENSP00000342007.4:p.Ile386Phe | |
| ENST00000343932.4:c.1156A>T | ENSP00000342007.4:p.Ile386Phe | |
| NM_000761.4:c.1156A>T | NP_000752.2:p.Ile386Phe | |
| NM_000761.5:c.1156A>T MANE Select | NP_000752.2:p.Ile386Phe |