Linked Data
ClinVar Variation Id:
12050
ClinVar RCV Id:
RCV000012830
dbSNP Id:
rs121917785
PubMed:
PMID:10431244
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95107112A>C , CM000671.2:g.95107112A>C | GRCh38 |
| NC_000009.11:g.97869394A>C , CM000671.1:g.97869394A>C | GRCh37 |
| NC_000009.10:g.96909215A>C | NCBI36 |
| NG_011707.1:g.215598T>G , LRG_497:g.215598T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.410+26332A>C (AOPEP) | ||
| ENST00000696260.1:n.2302T>G (FANCC) | ||
| ENST00000289081.8:c.1487T>G (FANCC) MANE Select | ENSP00000289081.3:p.Leu496Arg | |
| ENST00000375305.6:c.1487T>G (FANCC) | ENSP00000364454.1:p.Leu496Arg | |
| ENST00000649334.1:c.1632T>G (FANCC) | ENSP00000497735.1:n.1632T>G | |
| ENST00000289081.7:c.1487T>G (FANCC) | ENSP00000289081.3:p.Leu496Arg | |
| ENST00000375305.5:c.1487T>G (FANCC) | ENSP00000364454.1:p.Leu496Arg | |
| ENST00000464627.5:n.814T>G (FANCC) | ||
| NM_000136.2:c.1487T>G , LRG_497t1:c.1487T>G (FANCC) | NP_000127.2:p.Leu496Arg | |
| NM_001243743.1:c.1487T>G (FANCC) | NP_001230672.1:p.Leu496Arg | |
| XM_005251802.2:c.806T>G (FANCC) | XP_005251859.1:p.Leu269Arg | |
| XM_006717001.1:c.1322T>G (FANCC) | XP_006717064.1:p.Leu441Arg | |
| XM_011518365.1:c.1487T>G (FANCC) | XP_011516667.1:p.Leu496Arg | |
| XM_011518367.1:c.1031T>G (FANCC) | XP_011516669.1:p.Leu344Arg | |
| XM_011519121.1:c.2319+26332A>C (AOPEP) | XP_011517423.1:n.2319+26332A>C | |
| XM_005251802.3:c.806T>G (FANCC) | XP_005251859.1:p.Leu269Arg | |
| XM_006717001.3:c.1322T>G (FANCC) | XP_006717064.1:p.Leu441Arg | |
| XM_011518365.3:c.1487T>G (FANCC) | XP_011516667.1:p.Leu496Arg | |
| XM_011518367.2:c.1031T>G (FANCC) | XP_011516669.1:p.Leu344Arg | |
| XM_011519121.3:c.2319+26332A>C (AOPEP) | XP_011517423.1:n.2319+26332A>C | |
| XM_017014452.2:c.1031T>G (FANCC) | XP_016869941.1:p.Leu344Arg | |
| XM_017014453.1:c.1031T>G (FANCC) | XP_016869942.1:p.Leu344Arg | |
| XM_017014454.1:c.866T>G (FANCC) | XP_016869943.1:p.Leu289Arg | |
| XM_024447451.1:c.1487T>G (FANCC) | XP_024303219.1:p.Leu496Arg | |
| XR_001746847.1:n.530A>C | ||
| NM_000136.3:c.1487T>G (FANCC) MANE Select | NP_000127.2:p.Leu496Arg | |
| NM_001243743.2:c.1487T>G (FANCC) | NP_001230672.1:p.Leu496Arg |