Linked Data
ClinVar Variation Id:
1072746
dbSNP Id:
rs148412181
gnomAD v3:
1-40080483-C-G
gnomAD v4:
1-40080483-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40080483C>G , CM000663.2:g.40080483C>G | GRCh38 |
| NC_000001.10:g.40546155C>G , CM000663.1:g.40546155C>G | GRCh37 |
| NC_000001.9:g.40318742C>G | NCBI36 |
| NG_009192.1:g.21988G>C , LRG_690:g.21988G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*377G>C | ENSP00000361865.5:n.*377G>C | |
| ENST00000433473.8:c.538G>C | ENSP00000394863.4:p.Val180Leu | |
| ENST00000439754.6:c.541G>C | ENSP00000403207.2:p.Val181Leu | |
| ENST00000449045.7:c.232G>C | ENSP00000392293.2:p.Val78Leu | |
| ENST00000527311.7:c.310G>C | ENSP00000436695.3:p.Val104Leu | |
| ENST00000530076.6:c.-117G>C | ENSP00000434007.1:n.-117G>C | |
| ENST00000530704.6:c.*164G>C | ENSP00000431655.1:n.*164G>C | |
| ENST00000641083.1:c.519G>C | ||
| ENST00000641236.1:n.778G>C | ||
| ENST00000641319.1:c.541G>C | ENSP00000493128.1:p.Val181Leu | |
| ENST00000641381.1:c.149-3570G>C | ||
| ENST00000641471.1:c.628G>C | ENSP00000493146.1:p.Val210Leu | |
| ENST00000641691.1:c.*393G>C | ENSP00000492910.1:n.*393G>C | |
| ENST00000641924.1:c.129G>C | ENSP00000493063.1:p.Ser43= | |
| ENST00000642050.2:c.541G>C MANE Select | ENSP00000493153.1:p.Val181Leu | |
| ENST00000372779.8:c.628G>C | ENSP00000361865.4:p.Val210Leu | |
| ENST00000433473.7:c.541G>C | ENSP00000394863.3:p.Val181Leu | |
| ENST00000439754.5:c.226G>C | ENSP00000403207.1:p.Val76Leu | |
| ENST00000449045.6:c.232G>C | ENSP00000392293.2:p.Val78Leu | |
| ENST00000527311.6:c.316G>C | ENSP00000436695.2:p.Val106Leu | |
| ENST00000529905.5:c.541G>C | ENSP00000432053.1:p.Val181Leu | |
| ENST00000530076.5:c.-117G>C | ENSP00000434007.1:n.-117G>C | |
| ENST00000530704.5:c.*164G>C | ENSP00000431655.1:n.*164G>C | |
| NM_000310.3:c.541G>C , LRG_690t1:c.541G>C | NP_000301.1:p.Val181Leu | |
| NM_001142604.1:c.232G>C | NP_001136076.1:p.Val78Leu | |
| XM_005271008.1:c.541G>C | XP_005271065.1:p.Val181Leu | |
| NM_001363695.1:c.541G>C | NP_001350624.1:p.Val181Leu | |
| NM_000310.4:c.541G>C MANE Select | NP_000301.1:p.Val181Leu | |
| NM_001142604.2:c.232G>C | NP_001136076.1:p.Val78Leu | |
| NM_001363695.2:c.541G>C | NP_001350624.1:p.Val181Leu |