Linked Data
ClinVar Variation Id:
1980452
ClinVar RCV Id:
RCV002761354
dbSNP Id:
rs755592783
ExAC:
2:24469746 C / T
gnomAD v2:
2-24469746-C-T
gnomAD v3:
2-24246877-C-T
gnomAD v4:
2-24246877-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24246877C>T , CM000664.2:g.24246877C>T | GRCh38 |
| NC_000002.11:g.24469746C>T , CM000664.1:g.24469746C>T | GRCh37 |
| NC_000002.10:g.24323250C>T | NCBI36 |
| NG_029516.1:g.118652G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355123.9:c.3305G>A MANE Select | ENSP00000347244.4:p.Arg1102Gln | |
| ENST00000355123.8:c.3305G>A | ENSP00000347244.4:p.Arg1102Gln | |
| ENST00000361999.7:c.3224G>A | ENSP00000354561.2:p.Arg1075Gln | |
| ENST00000406921.7:c.3305G>A | ENSP00000384499.3:p.Arg1102Gln | |
| ENST00000416160.1:c.88G>A | ||
| ENST00000622089.4:c.3254G>A | ENSP00000479408.1:p.Arg1085Gln | |
| NM_006277.2:c.3305G>A | NP_006268.2:p.Arg1102Gln | |
| NM_019595.3:c.3224G>A | NP_062541.3:p.Arg1075Gln | |
| NM_147152.2:c.3305G>A | NP_671494.2:p.Arg1102Gln | |
| NM_001348181.1:c.3263G>A | NP_001335110.1:p.Arg1088Gln | |
| NM_001348182.1:c.3185G>A | NP_001335111.1:p.Arg1062Gln | |
| NM_001348183.1:c.3224G>A | NP_001335112.1:p.Arg1075Gln | |
| NM_001348184.1:c.3182G>A | NP_001335113.1:p.Arg1061Gln | |
| NM_001348185.1:c.3266G>A | NP_001335114.1:p.Arg1089Gln | |
| NM_001348186.1:c.3185G>A | NP_001335115.1:p.Arg1062Gln | |
| XM_024452930.1:c.3305G>A | XP_024308698.1:p.Arg1102Gln | |
| XM_024452931.1:c.3305G>A | XP_024308699.1:p.Arg1102Gln | |
| XM_024452932.1:c.3263G>A | XP_024308700.1:p.Arg1088Gln | |
| XM_024452933.1:c.3266G>A | XP_024308701.1:p.Arg1089Gln | |
| XM_024452934.1:c.3224G>A | XP_024308702.1:p.Arg1075Gln | |
| XM_024452935.1:c.3182G>A | XP_024308703.1:p.Arg1061Gln | |
| XM_024452936.1:c.3263G>A | XP_024308704.1:p.Arg1088Gln | |
| XM_024452937.1:c.1001G>A | XP_024308705.1:p.Arg334Gln | |
| XR_002959302.1:n.3293G>A | ||
| NM_001348181.2:c.3263G>A | NP_001335110.1:p.Arg1088Gln | |
| NM_001348182.2:c.3185G>A | NP_001335111.1:p.Arg1062Gln | |
| NM_001348183.2:c.3224G>A | NP_001335112.1:p.Arg1075Gln | |
| NM_001348184.2:c.3182G>A | NP_001335113.1:p.Arg1061Gln | |
| NM_001348185.2:c.3266G>A | NP_001335114.1:p.Arg1089Gln | |
| NM_001348186.2:c.3185G>A | NP_001335115.1:p.Arg1062Gln | |
| NM_006277.3:c.3305G>A MANE Select | NP_006268.2:p.Arg1102Gln | |
| NM_019595.4:c.3224G>A | NP_062541.3:p.Arg1075Gln | |
| NM_147152.3:c.3305G>A | NP_671494.2:p.Arg1102Gln |