Linked Data
ClinVar Variation Id:
1449924
dbSNP Id:
rs782516328
ExAC:
X:48762086 T / C
gnomAD v2:
X-48762086-T-C
gnomAD v3:
X-48904809-T-C
gnomAD v4:
X-48904809-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48904809T>C , CM000685.2:g.48904809T>C | GRCh38 |
| NC_000023.10:g.48762086T>C , CM000685.1:g.48762086T>C | GRCh37 |
| NC_000023.9:g.48647030T>C | NCBI36 |
| NG_015967.1:g.11892T>C | |
| NG_034300.1:g.12150A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247138.11:c.1100A>G MANE Select | ENSP00000247138.5:p.Gln367Arg | |
| ENST00000247138.10:c.1100A>G | ENSP00000247138.5:p.Gln367Arg | |
| ENST00000376515.8:c.438A>G | ENSP00000365698.3:p.Ala146= | |
| ENST00000376521.6:c.1100A>G | ENSP00000365704.1:p.Gln367Arg | |
| ENST00000376529.8:c.510A>G | ENSP00000365712.3:p.Ala170= | |
| ENST00000413561.7:c.662A>G | ||
| ENST00000445167.7:c.510A>G | ENSP00000402726.2:p.Ala170= | |
| ENST00000452555.7:c.1184A>G | ENSP00000416002.2:p.Gln395Arg | |
| ENST00000616181.5:c.1139A>G | ENSP00000478617.1:p.Gln380Arg | |
| ENST00000635285.1:c.1100A>G | ENSP00000489484.1:p.Gln367Arg | |
| ENST00000635460.1:c.425-1344A>G | ||
| ENST00000635589.1:c.917A>G | ENSP00000489197.1:p.Gln306Arg | |
| ENST00000635628.1:c.*994A>G | ENSP00000489613.1:n.*994A>G | |
| NM_001032289.2:c.510A>G | NP_001027460.1:p.Ala170= | |
| NM_001042498.2:c.1100A>G | NP_001035963.1:p.Gln367Arg | |
| NM_001282647.1:c.510A>G | NP_001269576.1:p.Ala170= | |
| NM_001282648.1:c.438A>G | NP_001269577.1:p.Ala146= | |
| NM_001282649.1:c.917A>G | NP_001269578.1:p.Gln306Arg | |
| NM_001282650.1:c.1139A>G | NP_001269579.1:p.Gln380Arg | |
| NM_001282651.1:c.1184A>G | NP_001269580.1:p.Gln395Arg | |
| NM_005660.2:c.1100A>G | NP_005651.1:p.Gln367Arg | |
| NM_005660.3:c.1100A>G MANE Select | NP_005651.1:p.Gln367Arg | |
| NM_001032289.3:c.510A>G | NP_001027460.1:p.Ala170= | |
| NM_001042498.3:c.1100A>G | NP_001035963.1:p.Gln367Arg | |
| NM_001282647.2:c.510A>G | NP_001269576.1:p.Ala170= | |
| NM_001282649.2:c.917A>G | NP_001269578.1:p.Gln306Arg | |
| NM_001282650.2:c.1139A>G | NP_001269579.1:p.Gln380Arg | |
| NM_001282651.2:c.1184A>G | NP_001269580.1:p.Gln395Arg | |
| NM_001282648.2:c.438A>G | NP_001269577.1:p.Ala146= |