Linked Data
dbSNP Id:
rs766159387
ExAC:
10:96702050 G / T
gnomAD v2:
10-96702050-G-T
gnomAD v3:
10-94942293-G-T
gnomAD v4:
10-94942293-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942293G>T , CM000672.2:g.94942293G>T | GRCh38 |
| NC_000010.10:g.96702050G>T , CM000672.1:g.96702050G>T | GRCh37 |
| NC_000010.9:g.96692040G>T | NCBI36 |
| NG_008385.1:g.8636G>T | |
| NG_008385.2:g.9136G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.433G>T MANE Select | ENSP00000260682.6:p.Val145Phe | |
| ENST00000643112.1:c.433G>T | ENSP00000496202.1:p.Val145Phe | |
| ENST00000645207.1:n.586G>T | ||
| ENST00000260682.6:c.433G>T | ENSP00000260682.6:p.Val145Phe | |
| ENST00000461906.1:n.458G>T | ||
| ENST00000473496.1:n.204G>T | ||
| NM_000771.3:c.433G>T | NP_000762.2:p.Val145Phe | |
| NM_000771.4:c.433G>T MANE Select | NP_000762.2:p.Val145Phe |