Linked Data
ClinVar Variation Id:
1136336
ClinVar RCV Id:
RCV001471944
dbSNP Id:
rs1227666493
gnomAD v2:
8-42977543-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43122400G>A , CM000670.2:g.43122400G>A | GRCh38 |
| NC_000008.10:g.42977543G>A , CM000670.1:g.42977543G>A | GRCh37 |
| NC_000008.9:g.43096700G>A | NCBI36 |
| NG_033235.1:g.33895G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331373.10:c.576G>A MANE Select | ENSP00000331258.5:p.Leu192= | |
| ENST00000614426.2:c.*372G>A | ENSP00000478821.2:n.*372G>A | |
| ENST00000674646.1:c.294G>A | ENSP00000501703.1:p.Leu98= | |
| ENST00000674676.1:c.294G>A | ENSP00000502544.1:p.Leu98= | |
| ENST00000674782.1:c.*496G>A | ENSP00000501683.1:n.*496G>A | |
| ENST00000674937.1:c.534G>A | ENSP00000501823.1:p.Leu178= | |
| ENST00000675322.1:c.294G>A | ENSP00000502235.1:p.Leu98= | |
| ENST00000675675.1:c.294G>A | ENSP00000501793.1:p.Leu98= | |
| ENST00000676178.1:c.*361G>A | ENSP00000502007.1:n.*361G>A | |
| ENST00000676193.1:c.576G>A | ENSP00000502774.1:p.Leu192= | |
| ENST00000331373.9:c.576G>A | ENSP00000331258.5:p.Leu192= | |
| ENST00000614426.1:c.576G>A | ENSP00000478821.1:p.Leu192= | |
| NM_001277971.1:c.576G>A | NP_001264900.1:p.Leu192= | |
| NM_032237.4:c.576G>A | NP_115613.1:p.Leu192= | |
| XM_011544668.1:c.576G>A | XP_011542970.1:p.Leu192= | |
| XM_011544669.1:c.576G>A | XP_011542971.1:p.Leu192= | |
| NM_032237.5:c.576G>A MANE Select | NP_115613.1:p.Leu192= | |
| NM_001277971.2:c.576G>A | NP_001264900.1:p.Leu192= |