Linked Data
ClinVar Variation Id:
188173
dbSNP Id:
rs150882838
ExAC:
5:112178484 C / T
gnomAD v2:
5-112178484-C-T
gnomAD v3:
5-112842787-C-T
gnomAD v4:
5-112842787-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842787C>T , CM000667.2:g.112842787C>T | GRCh38 |
| NC_000005.9:g.112178484C>T , CM000667.1:g.112178484C>T | GRCh37 |
| NC_000005.8:g.112206383C>T | NCBI36 |
| NG_008481.4:g.155267C>T , LRG_130:g.155267C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7247C>T | ENSP00000473355.2:p.Ser2416Phe | |
| ENST00000505350.2:c.*7199C>T | ENSP00000481752.1:n.*7199C>T | |
| ENST00000507379.6:c.7139C>T | ENSP00000423224.2:p.Ser2380Phe | |
| ENST00000509732.6:c.7193C>T | ENSP00000426541.2:p.Ser2398Phe | |
| ENST00000512211.7:c.7193C>T | ENSP00000423828.3:p.Ser2398Phe | |
| ENST00000257430.9:c.7193C>T MANE Select | ENSP00000257430.4:p.Ser2398Phe | |
| ENST00000257430.8:c.7193C>T | ENSP00000257430.4:p.Ser2398Phe | |
| ENST00000508376.6:c.7193C>T | ENSP00000427089.2:p.Ser2398Phe | |
| ENST00000520401.1:c.230+13815C>T | ||
| NM_000038.5:c.7193C>T | NP_000029.2:p.Ser2398Phe | |
| NM_001127510.2:c.7193C>T | NP_001120982.1:p.Ser2398Phe | |
| NM_001127511.2:c.7139C>T | NP_001120983.2:p.Ser2380Phe | |
| NM_001354895.1:c.7193C>T | NP_001341824.1:p.Ser2398Phe | |
| NM_001354896.1:c.7247C>T | NP_001341825.1:p.Ser2416Phe | |
| NM_001354897.1:c.7223C>T | NP_001341826.1:p.Ser2408Phe | |
| NM_001354898.1:c.7118C>T | NP_001341827.1:p.Ser2373Phe | |
| NM_001354899.1:c.7109C>T | NP_001341828.1:p.Ser2370Phe | |
| NM_001354900.1:c.7070C>T | NP_001341829.1:p.Ser2357Phe | |
| NM_001354901.1:c.7016C>T | NP_001341830.1:p.Ser2339Phe | |
| NM_001354902.1:c.6920C>T | NP_001341831.1:p.Ser2307Phe | |
| NM_001354903.1:c.6890C>T | NP_001341832.1:p.Ser2297Phe | |
| NM_001354904.1:c.6815C>T | NP_001341833.1:p.Ser2272Phe | |
| NM_001354905.1:c.6713C>T | NP_001341834.1:p.Ser2238Phe | |
| NM_001354906.1:c.6344C>T | NP_001341835.1:p.Ser2115Phe | |
| NM_000038.6:c.7193C>T MANE Select | NP_000029.2:p.Ser2398Phe | |
| NM_001127510.3:c.7193C>T | NP_001120982.1:p.Ser2398Phe | |
| NM_001127511.3:c.7139C>T | NP_001120983.2:p.Ser2380Phe | |
| NM_001354895.2:c.7193C>T | NP_001341824.1:p.Ser2398Phe | |
| NM_001354896.2:c.7247C>T | NP_001341825.1:p.Ser2416Phe | |
| NM_001354897.2:c.7223C>T | NP_001341826.1:p.Ser2408Phe | |
| NM_001354898.2:c.7118C>T | NP_001341827.1:p.Ser2373Phe | |
| NM_001354899.2:c.7109C>T | NP_001341828.1:p.Ser2370Phe | |
| NM_001354900.2:c.7070C>T | NP_001341829.1:p.Ser2357Phe | |
| NM_001354901.2:c.7016C>T | NP_001341830.1:p.Ser2339Phe | |
| NM_001354902.2:c.6920C>T | NP_001341831.1:p.Ser2307Phe | |
| NM_001354903.2:c.6890C>T | NP_001341832.1:p.Ser2297Phe | |
| NM_001354904.2:c.6815C>T | NP_001341833.1:p.Ser2272Phe | |
| NM_001354905.2:c.6713C>T | NP_001341834.1:p.Ser2238Phe | |
| NM_001354906.2:c.6344C>T | NP_001341835.1:p.Ser2115Phe |