Linked Data
ClinVar Variation Id:
449177
dbSNP Id:
rs766962315
ExAC:
X:119575678 C / G
gnomAD v2:
X-119575678-C-G
gnomAD v3:
X-120441823-C-G
gnomAD v4:
X-120441823-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120441823C>G , CM000685.2:g.120441823C>G | GRCh38 |
| NC_000023.10:g.119575678C>G , CM000685.1:g.119575678C>G | GRCh37 |
| NC_000023.9:g.119459706C>G | NCBI36 |
| NG_007995.1:g.32527G>C , LRG_749:g.32527G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706600.1:c.1000G>C | ENSP00000516464.1:p.Glu334Gln | |
| ENST00000200639.9:c.1000G>C MANE Select | ENSP00000200639.4:p.Glu334Gln | |
| ENST00000200639.8:c.1000G>C | ENSP00000200639.4:p.Glu334Gln | |
| ENST00000371335.4:c.1000G>C | ENSP00000360386.4:p.Glu334Gln | |
| ENST00000434600.6:c.1000G>C | ENSP00000408411.2:p.Glu334Gln | |
| ENST00000486593.5:c.543G>C | ||
| NM_001122606.1:c.1000G>C , LRG_749t3:c.1000G>C | NP_001116078.1:p.Glu334Gln | |
| NM_002294.2:c.1000G>C , LRG_749t1:c.1000G>C | NP_002285.1:p.Glu334Gln | |
| NM_013995.2:c.1000G>C , LRG_749t2:c.1000G>C | NP_054701.1:p.Glu334Gln | |
| NM_002294.3:c.1000G>C MANE Select | NP_002285.1:p.Glu334Gln |