Linked Data
ClinVar Variation Id:
1999225
ClinVar RCV Id:
RCV002815252
MyVariant Identifiers:
chr6:g.137219352A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136898214A>G , CM000668.2:g.136898214A>G | GRCh38 |
| NC_000006.11:g.137219352A>G , CM000668.1:g.137219352A>G | GRCh37 |
| NC_000006.10:g.137261045A>G | NCBI36 |
| NG_008462.1:g.80635A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.876A>G MANE Select | ENSP00000315680.3:p.Leu292= | |
| ENST00000541292.6:c.*141A>G | ENSP00000441004.1:n.*141A>G | |
| ENST00000678002.1:c.564A>G | ||
| ENST00000678557.1:c.762A>G | ENSP00000502962.1:p.Leu254= | |
| ENST00000679286.1:c.756A>G | ENSP00000503168.1:p.Leu252= | |
| ENST00000318471.4:c.876A>G | ENSP00000315680.3:p.Leu292= | |
| NM_000288.3:c.876A>G | NP_000279.1:p.Leu292= | |
| XM_005267019.3:c.762A>G | XP_005267076.1:p.Leu254= | |
| XM_006715502.1:c.582A>G | XP_006715565.1:p.Leu194= | |
| XM_011535900.1:c.599A>G | XP_011534202.1:p.Ter200Trp | |
| XM_005267019.4:c.762A>G | XP_005267076.1:p.Leu254= | |
| XM_006715502.2:c.582A>G | XP_006715565.1:p.Leu194= | |
| XM_017010934.2:c.599A>G | XP_016866423.1:p.Ter200Trp | |
| NM_000288.4:c.876A>G MANE Select | NP_000279.1:p.Leu292= |