Linked Data
ClinVar Variation Id:
36808
dbSNP Id:
rs193922587
ExAC:
12:121437325 C / T
gnomAD v2:
12-121437325-C-T
gnomAD v4:
12-120999522-C-T
PubMed:
PMID:18003757
ERepo:
CA214281/MONDO:0015967/017
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120999522C>T , CM000674.2:g.120999522C>T | GRCh38 |
| NC_000012.11:g.121437325C>T , CM000674.1:g.121437325C>T | GRCh37 |
| NC_000012.10:g.119921708C>T | NCBI36 |
| NG_011731.2:g.25777C>T , LRG_522:g.25777C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560968.6:c.*410C>T | ENSP00000453965.2:n.*410C>T | |
| ENST00000257555.11:c.1663C>T MANE Select | ENSP00000257555.5:p.Leu555Phe | |
| ENST00000257555.10:c.1663C>T | ENSP00000257555.4:p.Leu555Phe | |
| ENST00000540108.1:c.*1103C>T | ENSP00000445445.1:n.*1103C>T | |
| ENST00000541395.5:c.1756C>T | ENSP00000443112.1:p.Leu586Phe | |
| ENST00000543427.5:c.1126C>T | ENSP00000439721.2:p.Leu376Phe | |
| ENST00000544413.2:c.1684C>T | ENSP00000438804.1:p.Leu562Phe | |
| ENST00000560968.5:c.1480C>T | ||
| ENST00000615446.4:c.451C>T | ENSP00000483994.1:p.Leu151Phe | |
| ENST00000617366.4:c.*72C>T | ENSP00000481967.1:n.*72C>T | |
| NM_000545.5:c.1663C>T , LRG_522t1:c.1663C>T | NP_000536.5:p.Leu555Phe | |
| NM_000545.6:c.1663C>T | NP_000536.5:p.Leu555Phe | |
| NM_001306179.1:c.1684C>T | NP_001293108.1:p.Leu562Phe | |
| XM_005253931.2:c.1756C>T | XP_005253988.1:p.Leu586Phe | |
| XM_024449168.1:c.1756C>T | XP_024304936.1:p.Leu586Phe | |
| NM_000545.8:c.1663C>T MANE Select | NP_000536.6:p.Leu555Phe | |
| NM_001306179.2:c.1684C>T | NP_001293108.2:p.Leu562Phe |