Linked Data
ClinVar Variation Id:
376179
ClinVar RCV Id:
RCV000432005
dbSNP Id:
rs1057519809
PubMed:
PMID:24265153
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4117586G>A , CM000681.2:g.4117586G>A | GRCh38 |
| NC_000019.9:g.4117584G>A , CM000681.1:g.4117584G>A | GRCh37 |
| NC_000019.8:g.4068584G>A | NCBI36 |
| NG_007996.1:g.11543C>T , LRG_750:g.11543C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.575C>T | ||
| ENST00000687128.1:n.575C>T | ||
| ENST00000262948.10:c.136C>T MANE Select | ENSP00000262948.4:p.Leu46Phe | |
| ENST00000262948.9:c.136C>T | ENSP00000262948.3:p.Leu46Phe | |
| ENST00000394867.8:c.-156C>T | ENSP00000378336.1:n.-156C>T | |
| ENST00000599345.1:n.333C>T | ||
| NM_030662.3:c.136C>T , LRG_750t1:c.136C>T | NP_109587.1:p.Leu46Phe | |
| XM_006722799.2:c.136C>T | XP_006722862.1:p.Leu46Phe | |
| XM_017026989.1:c.136C>T | XP_016882478.1:p.Leu46Phe | |
| XM_017026990.1:c.136C>T | XP_016882479.1:p.Leu46Phe | |
| XM_017026991.1:c.136C>T | XP_016882480.1:p.Leu46Phe | |
| NM_030662.4:c.136C>T MANE Select | NP_109587.1:p.Leu46Phe |