Linked Data
ClinVar Variation Id:
56135
ClinVar RCV Id:
RCV000049544
dbSNP Id:
rs386833617
ExAC:
10:126092390 G / A
gnomAD v2:
10-126092390-G-A
gnomAD v4:
10-124403821-G-A
PubMed:
PMID:22182799
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124403821G>A , CM000672.2:g.124403821G>A | GRCh38 |
| NC_000010.10:g.126092390G>A , CM000672.1:g.126092390G>A | GRCh37 |
| NC_000010.9:g.126082380G>A | NCBI36 |
| NG_008861.1:g.20130C>T , LRG_685:g.20130C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368845.6:c.748C>T MANE Select | ENSP00000357838.5:p.Arg250Ter | |
| ENST00000368845.5:c.748C>T | ENSP00000357838.5:p.Arg250Ter | |
| ENST00000467675.5:n.549C>T | ||
| ENST00000539214.5:c.334C>T | ENSP00000439042.1:p.Arg112Ter | |
| NM_000274.3:c.748C>T , LRG_685t1:c.748C>T | NP_000265.1:p.Arg250Ter | |
| NM_001171814.1:c.334C>T | NP_001165285.1:p.Arg112Ter | |
| XM_006717871.2:c.748C>T | XP_006717934.1:p.Arg250Ter | |
| XM_011539833.1:c.748C>T | XP_011538135.1:p.Arg250Ter | |
| XM_011539834.1:c.748C>T | XP_011538136.1:p.Arg250Ter | |
| NM_001322965.1:c.748C>T | NP_001309894.1:p.Arg250Ter | |
| NM_001322966.1:c.748C>T | NP_001309895.1:p.Arg250Ter | |
| NM_001322967.1:c.748C>T | NP_001309896.1:p.Arg250Ter | |
| NM_001322968.1:c.748C>T | NP_001309897.1:p.Arg250Ter | |
| NM_001322969.1:c.748C>T | NP_001309898.1:p.Arg250Ter | |
| NM_001322970.1:c.748C>T | NP_001309899.1:p.Arg250Ter | |
| NM_001322971.1:c.427C>T | NP_001309900.1:p.Arg143Ter | |
| NM_001322974.1:c.148C>T | NP_001309903.1:p.Arg50Ter | |
| XM_017016279.1:c.148C>T | XP_016871768.1:p.Arg50Ter | |
| NM_000274.4:c.748C>T MANE Select | NP_000265.1:p.Arg250Ter | |
| NM_001322965.2:c.748C>T | NP_001309894.1:p.Arg250Ter | |
| NM_001322966.2:c.748C>T | NP_001309895.1:p.Arg250Ter | |
| NM_001322967.2:c.748C>T | NP_001309896.1:p.Arg250Ter | |
| NM_001322968.2:c.748C>T | NP_001309897.1:p.Arg250Ter | |
| NM_001322969.2:c.748C>T | NP_001309898.1:p.Arg250Ter | |
| NM_001322970.2:c.748C>T | NP_001309899.1:p.Arg250Ter | |
| NM_001322971.2:c.427C>T | NP_001309900.1:p.Arg143Ter | |
| NM_001322974.2:c.148C>T | NP_001309903.1:p.Arg50Ter | |
| NM_001171814.2:c.334C>T | NP_001165285.1:p.Arg112Ter |