Linked Data
ClinVar Variation Id:
161779
ClinVar RCV Id:
RCV000149315
dbSNP Id:
rs193920895
gnomAD v4:
16-48256612-G-T
COSMIC:
COSM1180040
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.48256612G>T , CM000678.2:g.48256612G>T | GRCh38 |
| NC_000016.9:g.48290523G>T , CM000678.1:g.48290523G>T | GRCh37 |
| NC_000016.8:g.46848024G>T | NCBI36 |
| NG_053011.1:g.17446G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285737.9:c.471G>T MANE Select | ENSP00000285737.4:p.Leu157Phe | |
| ENST00000285737.8:c.471G>T | ENSP00000285737.4:p.Leu157Phe | |
| ENST00000416006.7:c.469-2006G>T | ENSP00000415983.3:n.469-2006G>T | |
| ENST00000535754.5:c.469-2006G>T | ENSP00000445426.1:n.469-2006G>T | |
| ENST00000566755.5:c.471G>T | ENSP00000457841.1:p.Leu157Phe | |
| NM_001300948.1:c.469-2006G>T | NP_001287877.1:n.469-2006G>T | |
| NM_031490.3:c.471G>T | NP_113678.2:p.Leu157Phe | |
| XM_011523371.1:c.471G>T | XP_011521673.1:p.Leu157Phe | |
| NM_001300948.2:c.469-2006G>T | NP_001287877.1:n.469-2006G>T | |
| NM_001348078.1:c.471G>T | NP_001335007.1:p.Leu157Phe | |
| NM_031490.4:c.471G>T | NP_113678.2:p.Leu157Phe | |
| XM_017023755.2:c.471G>T | XP_016879244.1:p.Leu157Phe | |
| XM_017023756.1:c.469-2006G>T | XP_016879245.1:n.469-2006G>T | |
| NM_001300948.3:c.469-2006G>T | NP_001287877.1:n.469-2006G>T | |
| NM_001348078.2:c.471G>T | NP_001335007.1:p.Leu157Phe | |
| NM_031490.5:c.471G>T MANE Select | NP_113678.2:p.Leu157Phe |