Linked Data
ClinVar Variation Id:
2709227
ClinVar RCV Id:
RCV003592650
dbSNP Id:
rs1567749846
gnomAD v4:
17-47221739-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47221739C>T , CM000679.2:g.47221739C>T | GRCh38 |
| NC_000017.10:g.45299105C>T , CM000679.1:g.45299105C>T | GRCh37 |
| NC_000017.9:g.42654104C>T | NCBI36 |
| NG_052847.1:g.17723C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354968.5:c.371C>T | ENSP00000347055.1:p.Ser124Phe | |
| ENST00000393450.5:c.371C>T MANE Select | ENSP00000377096.1:p.Ser124Phe | |
| ENST00000536623.6:c.371C>T | ENSP00000442375.2:p.Ser124Phe | |
| ENST00000570671.1:c.82C>T | ||
| ENST00000570772.5:c.*157C>T | ENSP00000458194.1:n.*157C>T | |
| ENST00000571981.5:c.*157C>T | ENSP00000459035.1:n.*157C>T | |
| ENST00000572303.1:c.464C>T | ENSP00000461747.1:p.Ser155Phe | |
| ENST00000572316.5:c.371C>T | ENSP00000461570.1:p.Ser124Phe | |
| ENST00000573747.6:c.321C>T | ENSP00000460734.1:p.Phe107= | |
| ENST00000576874.5:c.371C>T | ENSP00000458907.1:p.Ser124Phe | |
| NM_001002841.1:c.371C>T | NP_001002841.1:p.Ser124Phe | |
| NM_002476.2:c.371C>T MANE Select | NP_002467.1:p.Ser124Phe | |
| XM_005257391.3:c.371C>T | XP_005257448.1:p.Ser124Phe | |
| XM_011524838.1:c.371C>T | XP_011523140.1:p.Ser124Phe | |
| XM_011524839.1:c.161C>T | XP_011523141.1:p.Ser54Phe | |
| XM_005257391.5:c.371C>T | XP_005257448.1:p.Ser124Phe | |
| XM_011524839.2:c.464C>T | XP_011523141.2:p.Ser155Phe | |
| XM_017024683.1:c.464C>T | XP_016880172.1:p.Ser155Phe | |
| XM_024450766.1:c.464C>T | XP_024306534.1:p.Ser155Phe | |
| NM_001002841.2:c.371C>T | NP_001002841.1:p.Ser124Phe |