Linked Data
ClinVar Variation Id:
1979700
dbSNP Id:
rs551809311
ExAC:
2:24494739 C / T
gnomAD v2:
2-24494739-C-T
gnomAD v3:
2-24271870-C-T
gnomAD v4:
2-24271870-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24271870C>T , CM000664.2:g.24271870C>T | GRCh38 |
| NC_000002.11:g.24494739C>T , CM000664.1:g.24494739C>T | GRCh37 |
| NC_000002.10:g.24348243C>T | NCBI36 |
| NG_029516.1:g.93659G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355123.9:c.2153G>A MANE Select | ENSP00000347244.4:p.Arg718Gln | |
| ENST00000355123.8:c.2153G>A | ENSP00000347244.4:p.Arg718Gln | |
| ENST00000361999.7:c.2072G>A | ENSP00000354561.2:p.Arg691Gln | |
| ENST00000406921.7:c.2153G>A | ENSP00000384499.3:p.Arg718Gln | |
| ENST00000622089.4:c.2102G>A | ENSP00000479408.1:p.Arg701Gln | |
| NM_006277.2:c.2153G>A | NP_006268.2:p.Arg718Gln | |
| NM_019595.3:c.2072G>A | NP_062541.3:p.Arg691Gln | |
| NM_147152.2:c.2153G>A | NP_671494.2:p.Arg718Gln | |
| NM_001348181.1:c.2111G>A | NP_001335110.1:p.Arg704Gln | |
| NM_001348182.1:c.2072G>A | NP_001335111.1:p.Arg691Gln | |
| NM_001348183.1:c.2072G>A | NP_001335112.1:p.Arg691Gln | |
| NM_001348184.1:c.2030G>A | NP_001335113.1:p.Arg677Gln | |
| NM_001348185.1:c.2153G>A | NP_001335114.1:p.Arg718Gln | |
| NM_001348186.1:c.2072G>A | NP_001335115.1:p.Arg691Gln | |
| XM_024452930.1:c.2153G>A | XP_024308698.1:p.Arg718Gln | |
| XM_024452931.1:c.2153G>A | XP_024308699.1:p.Arg718Gln | |
| XM_024452932.1:c.2111G>A | XP_024308700.1:p.Arg704Gln | |
| XM_024452933.1:c.2153G>A | XP_024308701.1:p.Arg718Gln | |
| XM_024452934.1:c.2072G>A | XP_024308702.1:p.Arg691Gln | |
| XM_024452935.1:c.2030G>A | XP_024308703.1:p.Arg677Gln | |
| XM_024452936.1:c.2111G>A | XP_024308704.1:p.Arg704Gln | |
| XR_002959302.1:n.2141G>A | ||
| NM_001348181.2:c.2111G>A | NP_001335110.1:p.Arg704Gln | |
| NM_001348182.2:c.2072G>A | NP_001335111.1:p.Arg691Gln | |
| NM_001348183.2:c.2072G>A | NP_001335112.1:p.Arg691Gln | |
| NM_001348184.2:c.2030G>A | NP_001335113.1:p.Arg677Gln | |
| NM_001348185.2:c.2153G>A | NP_001335114.1:p.Arg718Gln | |
| NM_001348186.2:c.2072G>A | NP_001335115.1:p.Arg691Gln | |
| NM_006277.3:c.2153G>A MANE Select | NP_006268.2:p.Arg718Gln | |
| NM_019595.4:c.2072G>A | NP_062541.3:p.Arg691Gln | |
| NM_147152.3:c.2153G>A | NP_671494.2:p.Arg718Gln |