Linked Data
ClinVar Variation Id:
1136526
ClinVar RCV Id:
RCV001472192
dbSNP Id:
rs2109811162
MyVariant Identifiers:
chr4:g.55602705C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54736539C>T , CM000666.2:g.54736539C>T | GRCh38 |
| NC_000004.11:g.55602705C>T , CM000666.1:g.55602705C>T | GRCh37 |
| NC_000004.10:g.55297462C>T | NCBI36 |
| NG_007456.1:g.83545C>T , LRG_307:g.83545C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412167.7:c.2514C>T | ENSP00000390987.3:p.Phe838= | |
| ENST00000684818.1:n.1218C>T | ||
| ENST00000685269.1:n.2604C>T | ||
| ENST00000686011.1:c.2511C>T | ENSP00000509704.1:p.Phe837= | |
| ENST00000687109.1:c.2529C>T | ENSP00000509371.1:p.Phe843= | |
| ENST00000687208.1:n.2938C>T | ||
| ENST00000687246.1:c.2391C>T | ENSP00000509114.1:p.Phe797= | |
| ENST00000687265.1:n.2684C>T | ||
| ENST00000687295.1:c.2514C>T | ENSP00000509450.1:p.Phe838= | |
| ENST00000688060.1:n.323C>T | ||
| ENST00000689832.1:c.2526C>T | ENSP00000509084.1:p.Phe842= | |
| ENST00000689994.1:c.2016C>T | ENSP00000509156.1:p.Phe672= | |
| ENST00000690543.1:c.2517C>T | ENSP00000508831.1:p.Phe839= | |
| ENST00000690917.1:n.2744C>T | ||
| ENST00000691361.1:n.1436C>T | ||
| ENST00000692301.1:n.1218C>T | ||
| ENST00000692783.1:c.2523C>T | ENSP00000508733.1:p.Phe841= | |
| ENST00000692991.1:n.2623C>T | ||
| ENST00000288135.6:c.2526C>T MANE Select | ENSP00000288135.6:p.Phe842= | |
| ENST00000288135.5:c.2526C>T | ENSP00000288135.5:p.Phe842= | |
| ENST00000412167.6:c.2514C>T | ENSP00000390987.2:p.Phe838= | |
| NM_000222.2:c.2526C>T , LRG_307t1:c.2526C>T | NP_000213.1:p.Phe842= | |
| NM_001093772.1:c.2514C>T | NP_001087241.1:p.Phe838= | |
| XM_005265740.1:c.2529C>T | XP_005265797.1:p.Phe843= | |
| XM_005265741.1:c.2526C>T | XP_005265798.1:p.Phe842= | |
| XM_005265742.1:c.2517C>T | XP_005265799.1:p.Phe839= | |
| XM_005265742.3:c.2517C>T | XP_005265799.1:p.Phe839= | |
| XM_017008178.1:c.2523C>T | XP_016863667.1:p.Phe841= | |
| XM_017008179.1:c.2514C>T | XP_016863668.1:p.Phe838= | |
| XM_017008180.1:c.2511C>T | XP_016863669.1:p.Phe837= | |
| NM_000222.3:c.2526C>T MANE Select | NP_000213.1:p.Phe842= | |
| NM_001093772.2:c.2514C>T | NP_001087241.1:p.Phe838= | |
| NM_001385284.1:c.2529C>T | NP_001372213.1:p.Phe843= | |
| NM_001385285.1:c.2523C>T | NP_001372214.1:p.Phe841= | |
| NM_001385286.1:c.2511C>T | NP_001372215.1:p.Phe837= | |
| NM_001385288.1:c.2517C>T | NP_001372217.1:p.Phe839= | |
| NM_001385290.1:c.2526C>T | NP_001372219.1:p.Phe842= | |
| NM_001385292.1:c.2514C>T | NP_001372221.1:p.Phe838= |