Linked Data
ClinVar Variation Id:
16082
dbSNP Id:
rs1050450
ExAC:
3:49394834 G / A
gnomAD v2:
3-49394834-G-A
gnomAD v3:
3-49357401-G-A
gnomAD v4:
3-49357401-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
PubMed:
PMID:10220143
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49357401G>A , CM000665.2:g.49357401G>A | GRCh38 |
| NC_000003.11:g.49394834G>A , CM000665.1:g.49394834G>A | GRCh37 |
| NC_000003.10:g.49369838G>A | NCBI36 |
| NG_012264.1:g.5958C>T | |
| NG_051308.1:g.59697C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000419349.3:c.*581C>T | ENSP00000391316.1:n.*581C>T | |
| ENST00000496791.3:c.*425C>T | ENSP00000493593.2:n.*425C>T | |
| ENST00000643797.2:c.461C>T | ENSP00000495108.1:p.Pro154Leu | |
| ENST00000646881.3:c.*105C>T | ENSP00000495001.2:n.*105C>T | |
| ENST00000703795.1:c.596C>T | ENSP00000515480.1:p.Pro199Leu | |
| ENST00000703796.1:c.560C>T | ENSP00000515481.1:p.Pro187Leu | |
| ENST00000703797.1:c.*492C>T | ENSP00000515482.1:n.*492C>T | |
| ENST00000704356.1:c.356C>T | ENSP00000515867.1:p.Pro119Leu | |
| ENST00000704374.1:c.434C>T | ENSP00000515879.1:p.Pro145Leu | |
| ENST00000704375.1:c.*373C>T | ENSP00000515880.1:n.*373C>T | |
| ENST00000704376.1:c.*39C>T | ENSP00000515881.1:n.*39C>T | |
| ENST00000704377.1:c.*39C>T | ENSP00000515882.1:n.*39C>T | |
| ENST00000704378.1:c.*39C>T | ENSP00000515883.1:n.*39C>T | |
| ENST00000704379.1:n.472C>T | ||
| ENST00000704380.1:n.432C>T | ||
| ENST00000704381.1:c.*319C>T | ENSP00000515884.1:n.*319C>T | |
| ENST00000419349.2:c.*581C>T | ENSP00000391316.1:n.*581C>T | |
| ENST00000419783.3:c.599C>T MANE Select | ENSP00000407375.1:p.Pro200Leu | |
| ENST00000643797.1:c.461C>T | ENSP00000495108.1:p.Pro154Leu | |
| ENST00000419349.1:c.*581C>T | ENSP00000391316.1:n.*581C>T | |
| ENST00000419783.1:c.599C>T | ENSP00000407375.1:p.Pro200Leu | |
| ENST00000620890.1:c.596C>T | ENSP00000478837.1:p.Pro199Leu | |
| NM_000581.2:c.599C>T | NP_000572.2:p.Pro200Leu | |
| NM_201397.1:c.*581C>T | NP_958799.1:n.*581C>T | |
| NM_000581.3:c.599C>T | NP_000572.2:p.Pro200Leu | |
| NM_001329455.1:c.461C>T | NP_001316384.1:p.Pro154Leu | |
| NM_001329502.1:c.*425C>T | NP_001316431.1:n.*425C>T | |
| NM_001329503.1:c.*105C>T | NP_001316432.1:n.*105C>T | |
| NM_201397.2:c.*581C>T | NP_958799.1:n.*581C>T | |
| NM_000581.4:c.599C>T MANE Select | NP_000572.2:p.Pro200Leu | |
| NM_001329502.2:c.*425C>T | NP_001316431.1:n.*425C>T | |
| NM_001329503.2:c.*105C>T | NP_001316432.1:n.*105C>T | |
| NM_201397.3:c.*581C>T | NP_958799.1:n.*581C>T | |
| NM_001329455.2:c.461C>T | NP_001316384.1:p.Pro154Leu |