Linked Data
ClinVar Variation Id:
8907
ClinVar RCV Id:
RCV000009458
dbSNP Id:
rs137852701
PubMed:
PMID:11506414
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092085C>G , CM000663.2:g.40092085C>G | GRCh38 |
| NC_000001.10:g.40557757C>G , CM000663.1:g.40557757C>G | GRCh37 |
| NC_000001.9:g.40330344C>G | NCBI36 |
| NG_009192.1:g.10386G>C , LRG_690:g.10386G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*158G>C | ENSP00000361865.5:n.*158G>C | |
| ENST00000433473.8:c.319G>C | ENSP00000394863.4:p.Gly107Arg | |
| ENST00000439754.6:c.322G>C | ENSP00000403207.2:p.Gly108Arg | |
| ENST00000449045.7:c.125-2573G>C | ENSP00000392293.2:n.125-2573G>C | |
| ENST00000526547.2:c.602G>C | ||
| ENST00000527311.7:c.234+313G>C | ENSP00000436695.3:n.234+313G>C | |
| ENST00000530704.6:c.322G>C | ENSP00000431655.1:p.Gly108Arg | |
| ENST00000641083.1:c.300G>C | ||
| ENST00000641236.1:n.559G>C | ||
| ENST00000641319.1:c.322G>C | ENSP00000493128.1:p.Gly108Arg | |
| ENST00000641471.1:c.409G>C | ENSP00000493146.1:p.Gly137Arg | |
| ENST00000641548.1:c.*174G>C | ENSP00000492984.1:n.*174G>C | |
| ENST00000641691.1:c.*174G>C | ENSP00000492910.1:n.*174G>C | |
| ENST00000641924.1:c.124+5030G>C | ENSP00000493063.1:n.124+5030G>C | |
| ENST00000642050.2:c.322G>C MANE Select | ENSP00000493153.1:p.Gly108Arg | |
| ENST00000372779.8:c.409G>C | ENSP00000361865.4:p.Gly137Arg | |
| ENST00000433473.7:c.322G>C | ENSP00000394863.3:p.Gly108Arg | |
| ENST00000439754.5:c.7G>C | ENSP00000403207.1:p.Gly3Arg | |
| ENST00000449045.6:c.125-2573G>C | ENSP00000392293.2:n.125-2573G>C | |
| ENST00000526547.1:c.172G>C | ENSP00000436481.1:p.Gly58Arg | |
| ENST00000527311.6:c.125-28G>C | ENSP00000436695.2:n.125-28G>C | |
| ENST00000529905.5:c.322G>C | ENSP00000432053.1:p.Gly108Arg | |
| ENST00000530704.5:c.322G>C | ENSP00000431655.1:p.Gly108Arg | |
| NM_000310.3:c.322G>C , LRG_690t1:c.322G>C | NP_000301.1:p.Gly108Arg | |
| NM_001142604.1:c.125-2573G>C | NP_001136076.1:n.125-2573G>C | |
| XM_005271008.1:c.322G>C | XP_005271065.1:p.Gly108Arg | |
| NM_001363695.1:c.322G>C | NP_001350624.1:p.Gly108Arg | |
| NM_000310.4:c.322G>C MANE Select | NP_000301.1:p.Gly108Arg | |
| NM_001142604.2:c.125-2573G>C | NP_001136076.1:n.125-2573G>C | |
| NM_001363695.2:c.322G>C | NP_001350624.1:p.Gly108Arg |