Linked Data
ClinVar Variation Id:
366544
dbSNP Id:
rs143461644
ExAC:
9:311975 G / A
gnomAD v2:
9-311975-G-A
gnomAD v3:
9-311975-G-A
gnomAD v4:
9-311975-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.311975G>A , CM000671.2:g.311975G>A | GRCh38 |
| NC_000009.11:g.311975G>A , CM000671.1:g.311975G>A | GRCh37 |
| NC_000009.10:g.301975G>A | NCBI36 |
| NG_017007.1:g.102111G>A , LRG_196:g.102111G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.346G>A | ENSP00000371766.2:p.Val116Met | |
| ENST00000483757.6:c.346G>A | ENSP00000417691.2:p.Val116Met | |
| ENST00000682249.1:c.346G>A | ENSP00000507731.1:p.Val116Met | |
| ENST00000684384.1:n.659G>A | ||
| ENST00000432829.7:c.550G>A MANE Select | ENSP00000394888.3:p.Val184Met | |
| ENST00000382341.5:n.445G>A | ||
| ENST00000432829.6:c.550G>A | ENSP00000394888.3:p.Val184Met | |
| ENST00000453981.5:c.346G>A | ENSP00000408464.2:p.Val116Met | |
| ENST00000454469.6:n.659G>A | ||
| ENST00000469391.5:c.346G>A | ENSP00000419438.1:p.Val116Met | |
| ENST00000474772.1:n.18G>A | ||
| ENST00000478380.5:n.429G>A | ||
| ENST00000483757.5:c.346G>A | ENSP00000417691.1:p.Val116Met | |
| ENST00000495184.5:n.411G>A | ||
| ENST00000524396.5:c.*513G>A | ENSP00000436628.1:n.*513G>A | |
| NM_001190458.1:c.346G>A | NP_001177387.1:p.Val116Met | |
| NM_001193536.1:c.346G>A | NP_001180465.1:p.Val116Met | |
| NM_203447.3:c.550G>A , LRG_196t1:c.550G>A | NP_982272.2:p.Val184Met | |
| XM_011518045.1:c.346G>A | XP_011516347.1:p.Val116Met | |
| XM_011518046.1:c.412G>A | XP_011516348.1:p.Val138Met | |
| XM_011518047.1:c.346G>A | XP_011516349.1:p.Val116Met | |
| XM_011518048.1:c.346G>A | XP_011516350.1:p.Val116Met | |
| XM_011518045.3:c.346G>A | XP_011516347.1:p.Val116Met | |
| XM_011518046.2:c.412G>A | XP_011516348.1:p.Val138Met | |
| XM_011518047.3:c.346G>A | XP_011516349.1:p.Val116Met | |
| XM_011518048.2:c.346G>A | XP_011516350.1:p.Val116Met | |
| XM_017015173.1:c.346G>A | XP_016870662.1:p.Val116Met | |
| XM_017015174.1:c.412G>A | XP_016870663.1:p.Val138Met | |
| NM_001190458.2:c.346G>A | NP_001177387.1:p.Val116Met | |
| NM_001193536.2:c.346G>A | NP_001180465.1:p.Val116Met | |
| NM_203447.4:c.550G>A MANE Select | NP_982272.2:p.Val184Met |