Linked Data
ClinVar Variation Id:
1107017
ClinVar RCV Id:
RCV001431990
dbSNP Id:
rs2109781815
COSMIC:
COSM4439762
MyVariant Identifiers:
chr4:g.55594238T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54728072T>C , CM000666.2:g.54728072T>C | GRCh38 |
| NC_000004.11:g.55594238T>C , CM000666.1:g.55594238T>C | GRCh37 |
| NC_000004.10:g.55288995T>C | NCBI36 |
| NG_007456.1:g.75078T>C , LRG_307:g.75078T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412167.7:c.1932T>C | ENSP00000390987.3:p.Leu644= | |
| ENST00000685269.1:n.2019T>C | ||
| ENST00000686011.1:c.1929T>C | ENSP00000509704.1:p.Leu643= | |
| ENST00000687109.1:c.1944T>C | ENSP00000509371.1:p.Leu648= | |
| ENST00000687208.1:n.2356T>C | ||
| ENST00000687246.1:c.1929T>C | ENSP00000509114.1:p.Leu643= | |
| ENST00000687265.1:n.2099T>C | ||
| ENST00000687295.1:c.1929T>C | ENSP00000509450.1:p.Leu643= | |
| ENST00000689832.1:c.1944T>C | ENSP00000509084.1:p.Leu648= | |
| ENST00000689994.1:c.1431T>C | ENSP00000509156.1:p.Leu477= | |
| ENST00000690543.1:c.1932T>C | ENSP00000508831.1:p.Leu644= | |
| ENST00000690917.1:n.2159T>C | ||
| ENST00000691361.1:n.851T>C | ||
| ENST00000692783.1:c.1941T>C | ENSP00000508733.1:p.Leu647= | |
| ENST00000692991.1:n.2038T>C | ||
| ENST00000288135.6:c.1941T>C MANE Select | ENSP00000288135.6:p.Leu647= | |
| ENST00000288135.5:c.1941T>C | ENSP00000288135.5:p.Leu647= | |
| ENST00000412167.6:c.1929T>C | ENSP00000390987.2:p.Leu643= | |
| NM_000222.2:c.1941T>C , LRG_307t1:c.1941T>C | NP_000213.1:p.Leu647= | |
| NM_001093772.1:c.1929T>C | NP_001087241.1:p.Leu643= | |
| XM_005265740.1:c.1944T>C | XP_005265797.1:p.Leu648= | |
| XM_005265741.1:c.1944T>C | XP_005265798.1:p.Leu648= | |
| XM_005265742.1:c.1932T>C | XP_005265799.1:p.Leu644= | |
| XM_005265742.3:c.1932T>C | XP_005265799.1:p.Leu644= | |
| XM_017008178.1:c.1941T>C | XP_016863667.1:p.Leu647= | |
| XM_017008179.1:c.1932T>C | XP_016863668.1:p.Leu644= | |
| XM_017008180.1:c.1929T>C | XP_016863669.1:p.Leu643= | |
| NM_000222.3:c.1941T>C MANE Select | NP_000213.1:p.Leu647= | |
| NM_001093772.2:c.1929T>C | NP_001087241.1:p.Leu643= | |
| NM_001385284.1:c.1944T>C | NP_001372213.1:p.Leu648= | |
| NM_001385285.1:c.1941T>C | NP_001372214.1:p.Leu647= | |
| NM_001385286.1:c.1929T>C | NP_001372215.1:p.Leu643= | |
| NM_001385288.1:c.1932T>C | NP_001372217.1:p.Leu644= | |
| NM_001385290.1:c.1944T>C | NP_001372219.1:p.Leu648= | |
| NM_001385292.1:c.1932T>C | NP_001372221.1:p.Leu644= |