Linked Data
ClinVar Variation Id:
1007085
ClinVar RCV Id:
RCV001304223
dbSNP Id:
rs532241934
gnomAD v3:
16-90040313-G-C
gnomAD v4:
16-90040313-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.90040313G>C , CM000678.2:g.90040313G>C | GRCh38 |
| NC_000016.9:g.90106721G>C , CM000678.1:g.90106721G>C | GRCh37 |
| NC_000016.8:g.88634222G>C | NCBI36 |
| NG_046598.1:g.25685G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268699.9:c.1025G>C (GAS8) MANE Select | ENSP00000268699.4:p.Arg342Pro | |
| ENST00000536122.7:c.950G>C (GAS8) | ENSP00000440977.1:p.Arg317Pro | |
| ENST00000268699.8:c.1025G>C (GAS8) | ENSP00000268699.4:p.Arg342Pro | |
| ENST00000409873.5:n.797C>G (URAHP) | ||
| ENST00000536122.5:c.950G>C (GAS8) | ENSP00000440977.1:p.Arg317Pro | |
| ENST00000540721.5:n.996G>C (GAS8) | ||
| ENST00000564789.5:n.271G>C (GAS8) | ||
| ENST00000566266.5:c.*985G>C (GAS8) | ENSP00000454343.1:n.*985G>C | |
| ENST00000569399.1:n.660G>C (GAS8) | ||
| ENST00000569558.5:n.1828G>C (GAS8) | ||
| ENST00000620723.4:c.776G>C (GAS8) | ENSP00000482877.1:p.Arg259Pro | |
| NM_001286205.1:c.776G>C (GAS8) | NP_001273134.1:p.Arg259Pro | |
| NM_001286208.1:c.449G>C (GAS8) | NP_001273137.1:p.Arg150Pro | |
| NM_001286209.1:c.950G>C (GAS8) | NP_001273138.1:p.Arg317Pro | |
| NM_001481.2:c.1025G>C (GAS8) | NP_001472.1:p.Arg342Pro | |
| NR_027335.2:n.797C>G (URAHP) | ||
| XM_005256304.3:c.950G>C (GAS8) | XP_005256361.1:p.Arg317Pro | |
| XM_005256309.3:c.449G>C (GAS8) | XP_005256366.1:p.Arg150Pro | |
| XM_006721175.2:c.776G>C (GAS8) | XP_006721238.1:p.Arg259Pro | |
| XM_011522990.1:c.776G>C (GAS8) | XP_011521292.1:p.Arg259Pro | |
| XM_011522991.1:c.776G>C (GAS8) | XP_011521293.1:p.Arg259Pro | |
| XM_011522992.1:c.776G>C (GAS8) | XP_011521294.1:p.Arg259Pro | |
| XM_005256309.4:c.449G>C (GAS8) | XP_005256366.1:p.Arg150Pro | |
| XM_006721175.3:c.776G>C (GAS8) | XP_006721238.1:p.Arg259Pro | |
| XM_011522990.2:c.776G>C (GAS8) | XP_011521292.1:p.Arg259Pro | |
| XM_011522992.2:c.776G>C (GAS8) | XP_011521294.1:p.Arg259Pro | |
| XM_017023122.1:c.776G>C (GAS8) | XP_016878611.1:p.Arg259Pro | |
| XM_017023123.1:c.776G>C (GAS8) | XP_016878612.1:p.Arg259Pro | |
| XM_017023124.1:c.449G>C (GAS8) | XP_016878613.1:p.Arg150Pro | |
| XM_017023125.1:c.449G>C (GAS8) | XP_016878614.1:p.Arg150Pro | |
| XM_024450228.1:c.950G>C (GAS8) | XP_024305996.1:p.Arg317Pro | |
| NM_001481.3:c.1025G>C (GAS8) MANE Select | NP_001472.1:p.Arg342Pro | |
| NM_001286205.2:c.776G>C (GAS8) | NP_001273134.1:p.Arg259Pro | |
| NM_001286208.2:c.449G>C (GAS8) | NP_001273137.1:p.Arg150Pro | |
| NM_001286209.2:c.950G>C (GAS8) | NP_001273138.1:p.Arg317Pro |