Linked Data
ClinVar Variation Id:
17522
ClinVar RCV Id:
RCV000019074
dbSNP Id:
rs121912813
PubMed:
PMID:18182448
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74347903A>C , CM000677.2:g.74347903A>C | GRCh38 |
| NC_000015.9:g.74640244A>C , CM000677.1:g.74640244A>C | GRCh37 |
| NC_000015.8:g.72427297A>C | NCBI36 |
| NG_007973.1:g.24839T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268053.11:c.422T>G MANE Select | ENSP00000268053.6:p.Leu141Trp | |
| ENST00000268053.10:c.422T>G | ENSP00000268053.6:p.Leu141Trp | |
| ENST00000358632.8:c.-53T>G | ENSP00000351455.4:n.-53T>G | |
| ENST00000416978.1:c.422T>G | ENSP00000388018.1:p.Leu141Trp | |
| ENST00000435365.5:c.422T>G | ENSP00000391081.1:p.Leu141Trp | |
| ENST00000450547.1:c.-53T>G | ENSP00000402064.1:n.-53T>G | |
| ENST00000466978.1:n.816T>G | ||
| ENST00000566674.5:c.-53T>G | ENSP00000456941.1:n.-53T>G | |
| ENST00000569662.1:c.-49-2660T>G | ENSP00000456598.1:n.-49-2660T>G | |
| NM_000781.2:c.422T>G | NP_000772.2:p.Leu141Trp | |
| NM_001099773.1:c.-53T>G | NP_001093243.1:n.-53T>G | |
| NM_000781.3:c.422T>G MANE Select | NP_000772.2:p.Leu141Trp | |
| NM_001099773.2:c.-53T>G | NP_001093243.1:n.-53T>G |