Linked Data
ClinVar Variation Id:
2474294
ClinVar RCV Id:
RCV004266619
gnomAD v4:
9-117713804-C-T
COSMIC:
COSM4470679
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.117713804C>T , CM000671.2:g.117713804C>T | GRCh38 |
| NC_000009.11:g.120476082C>T , CM000671.1:g.120476082C>T | GRCh37 |
| NC_000009.10:g.119515903C>T | NCBI36 |
| NG_011475.1:g.14623C>T | |
| NG_011475.2:g.14402C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646089.2:c.93+9239C>T | ENSP00000496197.1:n.93+9239C>T | |
| ENST00000697624.1:n.200+9239C>T | ||
| ENST00000697625.1:c.93+9239C>T | ENSP00000513362.1:n.93+9239C>T | |
| ENST00000697636.1:c.93+9239C>T | ENSP00000513366.1:n.93+9239C>T | |
| ENST00000697637.1:c.93+9239C>T | ENSP00000513367.1:n.93+9239C>T | |
| ENST00000697664.1:c.140+5075C>T | ENSP00000513389.1:n.140+5075C>T | |
| ENST00000697665.1:c.93+9239C>T | ENSP00000513390.1:n.93+9239C>T | |
| ENST00000697666.1:c.140+5075C>T | ENSP00000513391.1:n.140+5075C>T | |
| ENST00000355622.8:c.1676C>T MANE Select | ENSP00000363089.5:p.Ser559Phe | |
| ENST00000394487.5:c.1556C>T | ENSP00000377997.4:p.Ser519Phe | |
| ENST00000472304.2:c.*1410C>T | ENSP00000496429.1:n.*1410C>T | |
| ENST00000642985.1:c.260+5075C>T | ENSP00000493686.1:n.260+5075C>T | |
| ENST00000646089.1:c.93+9239C>T | ENSP00000496197.1:n.93+9239C>T | |
| ENST00000665764.1:c.93+9239C>T | ENSP00000499745.1:n.93+9239C>T | |
| ENST00000355622.6:c.1676C>T | ENSP00000363089.5:p.Ser559Phe | |
| ENST00000394487.4:c.1556C>T | ENSP00000377997.4:p.Ser519Phe | |
| ENST00000472304.1:n.1593C>T | ||
| NM_003266.3:c.1556C>T | NP_003257.1:p.Ser519Phe | |
| NM_138554.4:c.1676C>T | NP_612564.1:p.Ser559Phe | |
| NM_138557.2:c.1076C>T | NP_612567.1:p.Ser359Phe | |
| NM_138554.5:c.1676C>T MANE Select | NP_612564.1:p.Ser559Phe | |
| NM_003266.4:c.1556C>T | NP_003257.1:p.Ser519Phe | |
| NM_138557.3:c.1076C>T | NP_612567.1:p.Ser359Phe |