Linked Data
ClinVar Variation Id:
370037
ClinVar RCV Id:
RCV000509009
dbSNP Id:
rs758022116
ExAC:
20:37163795 G / T
gnomAD v2:
20-37163795-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38535152G>T , CM000682.2:g.38535152G>T | GRCh38 |
| NC_000020.10:g.37163795G>T , CM000682.1:g.37163795G>T | GRCh37 |
| NC_000020.9:g.36597209G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262879.11:c.2324G>T MANE Select | ENSP00000262879.6:p.Arg775Leu | |
| ENST00000262879.10:c.2324G>T | ENSP00000262879.6:p.Arg775Leu | |
| ENST00000397040.5:c.2324G>T | ENSP00000380233.1:p.Arg775Leu | |
| ENST00000397042.7:c.2312G>T | ENSP00000380235.3:p.Arg771Leu | |
| ENST00000438490.2:c.1808G>T | ENSP00000416646.1:p.Arg603Leu | |
| ENST00000461423.1:n.1576G>T | ||
| ENST00000632792.1:c.435G>T | ||
| NM_001282917.1:c.2324G>T | NP_001269846.1:p.Arg775Leu | |
| NM_001282918.1:c.2312G>T | NP_001269847.1:p.Arg771Leu | |
| NM_020336.3:c.2324G>T | NP_065069.1:p.Arg775Leu | |
| XM_005260462.1:c.2360G>T | XP_005260519.1:p.Arg787Leu | |
| XM_005260463.1:c.2360G>T | XP_005260520.1:p.Arg787Leu | |
| XM_005260464.1:c.2348G>T | XP_005260521.1:p.Arg783Leu | |
| XM_005260465.1:c.2324G>T | XP_005260522.1:p.Arg775Leu | |
| XM_011528918.1:c.1373G>T | XP_011527220.1:p.Arg458Leu | |
| XM_005260462.3:c.2360G>T | XP_005260519.1:p.Arg787Leu | |
| XM_005260463.3:c.2360G>T | XP_005260520.1:p.Arg787Leu | |
| XM_005260464.3:c.2348G>T | XP_005260521.1:p.Arg783Leu | |
| XM_005260465.3:c.2324G>T | XP_005260522.1:p.Arg775Leu | |
| XM_017027966.2:c.2348G>T | XP_016883455.1:p.Arg783Leu | |
| XM_017027967.2:c.2312G>T | XP_016883456.1:p.Arg771Leu | |
| XM_017027968.2:c.2006G>T | XP_016883457.1:p.Arg669Leu | |
| XM_017027969.2:c.1958G>T | XP_016883458.1:p.Arg653Leu | |
| XR_001754350.2:n.2640G>T | ||
| NM_020336.4:c.2324G>T MANE Select | NP_065069.1:p.Arg775Leu | |
| NM_001282917.2:c.2324G>T | NP_001269846.1:p.Arg775Leu | |
| NM_001282918.2:c.2312G>T | NP_001269847.1:p.Arg771Leu |