Linked Data
ClinVar Variation Id:
2560418
ClinVar RCV Id:
RCV004327969
dbSNP Id:
rs377171662
ExAC:
1:207696997 T / G
gnomAD v2:
1-207696997-T-G
gnomAD v3:
1-207523652-T-G
gnomAD v4:
1-207523652-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207523652T>G , CM000663.2:g.207523652T>G | GRCh38 |
| NC_000001.10:g.207696997T>G , CM000663.1:g.207696997T>G | GRCh37 |
| NC_000001.9:g.205763620T>G | NCBI36 |
| NG_007481.1:g.32525T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367049.9:c.529T>G MANE Select | ENSP00000356016.4:p.Phe177Val | |
| ENST00000367051.6:c.487+11998T>G | ENSP00000356018.1:n.487+11998T>G | |
| ENST00000367052.6:c.529T>G | ENSP00000356019.1:p.Phe177Val | |
| ENST00000367053.6:c.529T>G | ENSP00000356020.1:p.Phe177Val | |
| ENST00000400960.7:c.529T>G | ENSP00000383744.2:p.Phe177Val | |
| ENST00000367049.8:c.529T>G | ENSP00000356016.4:p.Phe177Val | |
| ENST00000367050.8:n.650T>G | ||
| ENST00000367051.5:c.487+11998T>G | ENSP00000356018.1:n.487+11998T>G | |
| ENST00000367052.5:c.529T>G | ENSP00000356019.1:p.Phe177Val | |
| ENST00000367053.5:c.529T>G | ENSP00000356020.1:p.Phe177Val | |
| ENST00000400960.6:c.529T>G | ENSP00000383744.2:p.Phe177Val | |
| ENST00000434033.5:n.456T>G | ||
| ENST00000436595.1:n.414+11998T>G | ||
| ENST00000450439.5:n.456T>G | ||
| ENST00000529814.1:c.456T>G | ||
| ENST00000534202.5:c.529T>G | ENSP00000436139.2:p.Phe177Val | |
| NM_000573.3:c.529T>G | NP_000564.2:p.Phe177Val | |
| NM_000651.4:c.529T>G | NP_000642.3:p.Phe177Val | |
| XM_006711166.2:c.544T>G | XP_006711229.1:p.Phe182Val | |
| XM_011509205.1:c.544T>G | XP_011507507.1:p.Phe182Val | |
| NM_000651.5:c.529T>G | NP_000642.3:p.Phe177Val | |
| XM_024453287.1:c.544T>G | XP_024309055.1:p.Phe182Val | |
| NM_000573.4:c.529T>G | NP_000564.2:p.Phe177Val | |
| NM_000651.6:c.529T>G MANE Select | NP_000642.3:p.Phe177Val |