Linked Data
ClinVar Variation Id:
1020355
ClinVar RCV Id:
RCV003770718
dbSNP Id:
rs1478560138
gnomAD v2:
9-377179-C-T
gnomAD v3:
9-377179-C-T
gnomAD v4:
9-377179-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.377179C>T , CM000671.2:g.377179C>T | GRCh38 |
| NC_000009.11:g.377179C>T , CM000671.1:g.377179C>T | GRCh37 |
| NC_000009.10:g.367179C>T | NCBI36 |
| NG_017007.1:g.167315C>T , LRG_196:g.167315C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.2204C>T | ENSP00000371766.2:p.Ser735Phe | |
| ENST00000382331.6:n.905C>T | ||
| ENST00000483757.6:c.*1095C>T | ENSP00000417691.2:n.*1095C>T | |
| ENST00000682260.1:n.2304C>T | ||
| ENST00000685949.1:n.1196C>T | ||
| ENST00000432829.7:c.2408C>T MANE Select | ENSP00000394888.3:p.Ser803Phe | |
| ENST00000382329.1:c.809C>T | ENSP00000371766.1:p.Ser270Phe | |
| ENST00000382331.5:c.314C>T | ENSP00000371768.1:p.Ser105Phe | |
| ENST00000432829.6:c.2408C>T | ENSP00000394888.3:p.Ser803Phe | |
| ENST00000453981.5:c.2204C>T | ENSP00000408464.2:p.Ser735Phe | |
| ENST00000469391.5:c.2204C>T | ENSP00000419438.1:p.Ser735Phe | |
| ENST00000483757.5:c.*1883C>T | ENSP00000417691.1:n.*1883C>T | |
| ENST00000495184.5:n.4363C>T | ||
| NM_001190458.1:c.2204C>T | NP_001177387.1:p.Ser735Phe | |
| NM_001193536.1:c.2204C>T | NP_001180465.1:p.Ser735Phe | |
| NM_203447.3:c.2408C>T , LRG_196t1:c.2408C>T | NP_982272.2:p.Ser803Phe | |
| XM_011518045.1:c.2204C>T | XP_011516347.1:p.Ser735Phe | |
| XM_011518046.1:c.2270C>T | XP_011516348.1:p.Ser757Phe | |
| XM_011518047.1:c.2204C>T | XP_011516349.1:p.Ser735Phe | |
| XM_011518048.1:c.2204C>T | XP_011516350.1:p.Ser735Phe | |
| XM_011518049.1:c.644C>T | XP_011516351.1:p.Ser215Phe | |
| XM_011518045.3:c.2204C>T | XP_011516347.1:p.Ser735Phe | |
| XM_011518046.2:c.2270C>T | XP_011516348.1:p.Ser757Phe | |
| XM_011518047.3:c.2204C>T | XP_011516349.1:p.Ser735Phe | |
| XM_011518048.2:c.2204C>T | XP_011516350.1:p.Ser735Phe | |
| XM_011518049.2:c.644C>T | XP_011516351.1:p.Ser215Phe | |
| XM_017015173.1:c.2204C>T | XP_016870662.1:p.Ser735Phe | |
| XM_017015174.1:c.2270C>T | XP_016870663.1:p.Ser757Phe | |
| NM_001190458.2:c.2204C>T | NP_001177387.1:p.Ser735Phe | |
| NM_001193536.2:c.2204C>T | NP_001180465.1:p.Ser735Phe | |
| NM_203447.4:c.2408C>T MANE Select | NP_982272.2:p.Ser803Phe |