Linked Data
dbSNP Id:
rs200571296
ExAC:
18:50432572 G / T
gnomAD v2:
18-50432572-G-T
gnomAD v3:
18-52906202-G-T
gnomAD v4:
18-52906202-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.52906202G>T , CM000680.2:g.52906202G>T | GRCh38 |
| NC_000018.9:g.50432572G>T , CM000680.1:g.50432572G>T | GRCh37 |
| NC_000018.8:g.48686570G>T | NCBI36 |
| NG_013341.1:g.571031G>T | |
| NG_013341.2:g.571031G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.571G>T MANE Select | ENSP00000389140.2:p.Val191Phe | |
| ENST00000304775.12:c.372G>T | ||
| ENST00000412726.5:c.502G>T | ENSP00000397322.2:p.Val168Phe | |
| ENST00000442544.6:c.571G>T | ENSP00000389140.2:p.Val191Phe | |
| ENST00000579349.1:c.492G>T | ||
| ENST00000580024.1:n.484G>T | ||
| ENST00000581559.1:c.492G>T | ENSP00000463463.1:n.492G>T | |
| NM_005215.3:c.571G>T | NP_005206.2:p.Val191Phe | |
| XM_011525843.1:c.571G>T | XP_011524145.1:p.Val191Phe | |
| XM_011525845.1:c.571G>T | XP_011524147.1:p.Val191Phe | |
| XM_011525846.1:c.571G>T | XP_011524148.1:p.Val191Phe | |
| XM_017025568.1:c.571G>T | XP_016881057.1:p.Val191Phe | |
| XM_017025569.1:c.571G>T | XP_016881058.1:p.Val191Phe | |
| NM_005215.4:c.571G>T MANE Select | NP_005206.2:p.Val191Phe |