Linked Data
ClinVar Variation Id:
468916
dbSNP Id:
rs59117380
ExAC:
1:6534155 G / A
gnomAD v2:
1-6534155-G-A
gnomAD v3:
1-6474095-G-A
gnomAD v4:
1-6474095-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6474095G>A , CM000663.2:g.6474095G>A | GRCh38 |
| NC_000001.10:g.6534155G>A , CM000663.1:g.6534155G>A | GRCh37 |
| NC_000001.9:g.6456742G>A | NCBI36 |
| NG_007978.1:g.50915C>T , LRG_262:g.50915C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.509C>T | ENSP00000344570.5:p.Pro170Leu | |
| ENST00000377728.8:c.509C>T MANE Select | ENSP00000366957.3:p.Pro170Leu | |
| ENST00000377740.5:c.509C>T | ENSP00000366969.4:p.Pro170Leu | |
| ENST00000377748.6:c.683C>T | ENSP00000366977.2:p.Pro228Leu | |
| ENST00000400913.6:c.509C>T | ENSP00000383704.1:p.Pro170Leu | |
| ENST00000400915.8:c.620C>T | ENSP00000383706.4:p.Pro207Leu | |
| ENST00000489097.6:n.985C>T | ||
| ENST00000535355.6:c.716C>T | ENSP00000441445.1:p.Pro239Leu | |
| ENST00000537245.6:c.620C>T | ENSP00000439625.2:p.Pro207Leu | |
| ENST00000673471.2:c.806C>T | ENSP00000500749.1:p.Pro269Leu | |
| ENST00000674790.1:c.*721C>T | ENSP00000502815.1:n.*721C>T | |
| ENST00000675123.1:c.509C>T | ENSP00000502132.1:p.Pro170Leu | |
| ENST00000675548.1:c.*337C>T | ENSP00000502684.1:n.*337C>T | |
| ENST00000675694.1:c.509C>T | ENSP00000501925.1:p.Pro170Leu | |
| ENST00000340850.9:c.509C>T | ENSP00000344570.5:p.Pro170Leu | |
| ENST00000377725.5:c.509C>T | ENSP00000366954.1:p.Pro170Leu | |
| ENST00000377728.7:c.509C>T | ENSP00000366957.3:p.Pro170Leu | |
| ENST00000377732.5:c.620C>T | ENSP00000366961.1:p.Pro207Leu | |
| ENST00000377740.4:c.740C>T | ENSP00000366969.3:p.Pro247Leu | |
| ENST00000377748.5:c.740C>T | ENSP00000366977.1:p.Pro247Leu | |
| ENST00000400913.5:c.509C>T | ENSP00000383704.1:p.Pro170Leu | |
| ENST00000400915.7:c.677C>T | ENSP00000383706.3:p.Pro226Leu | |
| ENST00000489097.5:n.985C>T | ||
| ENST00000535355.5:c.716C>T | ENSP00000441445.1:p.Pro239Leu | |
| ENST00000537245.5:c.746C>T | ENSP00000439625.1:p.Pro249Leu | |
| NM_001042663.1:c.677C>T | NP_001036128.1:p.Pro226Leu | |
| NM_001042664.1:c.509C>T | NP_001036129.1:p.Pro170Leu | |
| NM_001042665.1:c.509C>T | NP_001036130.1:p.Pro170Leu | |
| NM_001265592.1:c.746C>T | NP_001252521.1:p.Pro249Leu | |
| NM_001265593.1:c.716C>T | NP_001252522.1:p.Pro239Leu | |
| NM_001265594.1:c.509C>T | NP_001252523.1:p.Pro170Leu | |
| NM_020631.4:c.509C>T | NP_065682.2:p.Pro170Leu | |
| NM_198681.3:c.740C>T | NP_941374.2:p.Pro247Leu | |
| NM_001042663.2:c.677C>T | NP_001036128.1:p.Pro226Leu | |
| NM_001265594.2:c.509C>T | NP_001252523.1:p.Pro170Leu | |
| NM_020631.5:c.509C>T | NP_065682.2:p.Pro170Leu | |
| NM_001042663.3:c.620C>T | NP_001036128.2:p.Pro207Leu | |
| NM_001265592.2:c.620C>T | NP_001252521.2:p.Pro207Leu | |
| NM_020631.6:c.509C>T MANE Select | NP_065682.2:p.Pro170Leu | |
| NM_198681.4:c.509C>T | NP_941374.3:p.Pro170Leu |