Linked Data
dbSNP Id:
rs147369993
ExAC:
1:172634941 G / T
gnomAD v2:
1-172634941-G-T
gnomAD v3:
1-172665801-G-T
gnomAD v4:
1-172665801-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172665801G>T , CM000663.2:g.172665801G>T | GRCh38 |
| NC_000001.10:g.172634941G>T , CM000663.1:g.172634941G>T | GRCh37 |
| NC_000001.9:g.170901564G>T | NCBI36 |
| NG_007269.1:g.11757G>T , LRG_58:g.11757G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.631G>T MANE Select | ENSP00000356694.2:p.Val211Phe | |
| ENST00000340030.4:c.*201G>T | ENSP00000344739.3:n.*201G>T | |
| ENST00000367721.2:c.631G>T | ENSP00000356694.2:p.Val211Phe | |
| NM_000639.2:c.631G>T | NP_000630.1:p.Val211Phe | |
| NM_001302746.1:c.*201G>T | NP_001289675.1:n.*201G>T | |
| NM_000639.3:c.631G>T MANE Select | NP_000630.1:p.Val211Phe | |
| NM_001302746.2:c.*201G>T | NP_001289675.1:n.*201G>T |