Linked Data
ClinVar Variation Id:
366541
dbSNP Id:
rs146490788
ExAC:
9:304670 C / T
gnomAD v2:
9-304670-C-T
gnomAD v3:
9-304670-C-T
gnomAD v4:
9-304670-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.304670C>T , CM000671.2:g.304670C>T | GRCh38 |
| NC_000009.11:g.304670C>T , CM000671.1:g.304670C>T | GRCh37 |
| NC_000009.10:g.294670C>T | NCBI36 |
| NG_017007.1:g.94806C>T , LRG_196:g.94806C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.290C>T | ENSP00000371766.2:p.Ser97Leu | |
| ENST00000483757.6:c.290C>T | ENSP00000417691.2:p.Ser97Leu | |
| ENST00000682249.1:c.290C>T | ENSP00000507731.1:p.Ser97Leu | |
| ENST00000684384.1:n.603C>T | ||
| ENST00000432829.7:c.494C>T MANE Select | ENSP00000394888.3:p.Ser165Leu | |
| ENST00000382341.5:n.389C>T | ||
| ENST00000432829.6:c.494C>T | ENSP00000394888.3:p.Ser165Leu | |
| ENST00000453981.5:c.290C>T | ENSP00000408464.2:p.Ser97Leu | |
| ENST00000454469.6:n.603C>T | ||
| ENST00000469391.5:c.290C>T | ENSP00000419438.1:p.Ser97Leu | |
| ENST00000478380.5:n.373C>T | ||
| ENST00000483757.5:c.290C>T | ENSP00000417691.1:p.Ser97Leu | |
| ENST00000487230.5:c.290C>T | ENSP00000418318.1:p.Ser97Leu | |
| ENST00000495184.5:n.355C>T | ||
| ENST00000524396.5:c.*457C>T | ENSP00000436628.1:n.*457C>T | |
| NM_001190458.1:c.290C>T | NP_001177387.1:p.Ser97Leu | |
| NM_001193536.1:c.290C>T | NP_001180465.1:p.Ser97Leu | |
| NM_203447.3:c.494C>T , LRG_196t1:c.494C>T | NP_982272.2:p.Ser165Leu | |
| XM_011518045.1:c.290C>T | XP_011516347.1:p.Ser97Leu | |
| XM_011518046.1:c.356C>T | XP_011516348.1:p.Ser119Leu | |
| XM_011518047.1:c.290C>T | XP_011516349.1:p.Ser97Leu | |
| XM_011518048.1:c.290C>T | XP_011516350.1:p.Ser97Leu | |
| XM_011518045.3:c.290C>T | XP_011516347.1:p.Ser97Leu | |
| XM_011518046.2:c.356C>T | XP_011516348.1:p.Ser119Leu | |
| XM_011518047.3:c.290C>T | XP_011516349.1:p.Ser97Leu | |
| XM_011518048.2:c.290C>T | XP_011516350.1:p.Ser97Leu | |
| XM_017015173.1:c.290C>T | XP_016870662.1:p.Ser97Leu | |
| XM_017015174.1:c.356C>T | XP_016870663.1:p.Ser119Leu | |
| NM_001190458.2:c.290C>T | NP_001177387.1:p.Ser97Leu | |
| NM_001193536.2:c.290C>T | NP_001180465.1:p.Ser97Leu | |
| NM_203447.4:c.494C>T MANE Select | NP_982272.2:p.Ser165Leu |