Linked Data
ClinVar Variation Id:
100721
ClinVar RCV Id:
RCV000087086
dbSNP Id:
rs587779399
gnomAD v2:
1-24181029-G-A
gnomAD v3:
1-23854539-G-A
gnomAD v4:
1-23854539-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23854539G>A , CM000663.2:g.23854539G>A | GRCh38 |
| NC_000001.10:g.24181029G>A , CM000663.1:g.24181029G>A | GRCh37 |
| NC_000001.9:g.24053616G>A | NCBI36 |
| NG_013346.1:g.18831C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.790C>T MANE Select | ENSP00000363603.3:p.Arg264Ter | |
| ENST00000374479.3:c.790C>T | ENSP00000363603.3:p.Arg264Ter | |
| NM_000147.4:c.790C>T | NP_000138.2:p.Arg264Ter | |
| XM_005245821.1:c.415C>T | XP_005245878.1:p.Arg139Ter | |
| XM_011541167.1:c.157C>T | XP_011539469.1:p.Arg53Ter | |
| XM_005245821.3:c.415C>T | XP_005245878.1:p.Arg139Ter | |
| XM_011541167.3:c.157C>T | XP_011539469.1:p.Arg53Ter | |
| XM_017000905.2:c.487C>T | XP_016856394.1:p.Arg163Ter | |
| NM_000147.5:c.790C>T MANE Select | NP_000138.2:p.Arg264Ter | |
| NR_174379.1:n.968C>T | ||
| NR_174380.1:n.1017C>T | ||
| NR_174381.1:n.856C>T | ||
| NR_174382.1:n.1253C>T |