Linked Data
ClinVar Variation Id:
2006150
ClinVar RCV Id:
RCV002825745
gnomAD v4:
6-73644506-T-C
MyVariant Identifiers:
chr6:g.74354229T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73644506T>C , CM000668.2:g.73644506T>C | GRCh38 |
| NC_000006.11:g.74354229T>C , CM000668.1:g.74354229T>C | GRCh37 |
| NC_000006.10:g.74410950T>C | NCBI36 |
| NG_008272.1:g.14509A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355773.6:c.192A>G MANE Select | ENSP00000348019.5:p.Leu64= | |
| ENST00000355773.5:c.192A>G | ENSP00000348019.5:p.Leu64= | |
| NM_012434.4:c.192A>G | NP_036566.1:p.Leu64= | |
| XM_005248710.2:c.141A>G | XP_005248767.1:p.Leu47= | |
| XM_005248711.1:c.-7A>G | XP_005248768.1:n.-7A>G | |
| XM_011535750.1:c.192A>G | XP_011534052.1:p.Leu64= | |
| XM_011535751.1:c.192A>G | XP_011534053.1:p.Leu64= | |
| NM_012434.5:c.192A>G MANE Select | NP_036566.1:p.Leu64= | |
| NM_001382629.1:c.61-2582A>G | NP_001369558.1:n.61-2582A>G | |
| NM_001382630.1:c.192A>G | NP_001369559.1:p.Leu64= | |
| NM_001382631.1:c.213A>G | NP_001369560.1:p.Leu71= | |
| NM_001382632.1:c.192A>G | NP_001369561.1:p.Leu64= | |
| NM_001382633.1:c.192A>G | NP_001369562.1:p.Leu64= | |
| NM_001382634.1:c.192A>G | NP_001369563.1:p.Leu64= | |
| NM_001382635.1:c.192A>G | NP_001369564.1:p.Leu64= | |
| NM_001382636.1:c.61-2582A>G | NP_001369565.1:n.61-2582A>G |