Linked Data
dbSNP Id:
rs760963804
ExAC:
9:132576479 T / A
gnomAD v2:
9-132576479-T-A
gnomAD v4:
9-129814200-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814200T>A , CM000671.2:g.129814200T>A | GRCh38 |
| NC_000009.11:g.132576479T>A , CM000671.1:g.132576479T>A | GRCh37 |
| NC_000009.10:g.131616300T>A | NCBI36 |
| NG_008049.1:g.14963A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.771A>T MANE Select | ENSP00000345719.4:p.Leu257Phe | |
| ENST00000651202.1:c.*39A>T | ENSP00000498222.1:n.*39A>T | |
| ENST00000351698.4:c.771A>T | ENSP00000345719.4:p.Leu257Phe | |
| ENST00000474192.1:n.355A>T | ||
| NM_000113.2:c.771A>T | NP_000104.1:p.Leu257Phe | |
| XR_929731.1:n.1098A>T | ||
| XR_929731.3:n.966A>T | ||
| NM_000113.3:c.771A>T MANE Select | NP_000104.1:p.Leu257Phe |