Linked Data
ClinVar Variation Id:
280
ClinVar RCV Id:
RCV000000304
dbSNP Id:
rs267606699
gnomAD v2:
17-76989939-C-T
gnomAD v3:
17-78993857-C-T
gnomAD v4:
17-78993857-C-T
COSMIC:
COSM6455359
PubMed:
PMID:19853239
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78993857C>T , CM000679.2:g.78993857C>T | GRCh38 |
| NC_000017.10:g.76989939C>T , CM000679.1:g.76989939C>T | GRCh37 |
| NC_000017.9:g.74501534C>T | NCBI36 |
| NG_016645.1:g.20961G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392446.10:c.899G>A MANE Select | ENSP00000376241.4:p.Arg300His | |
| ENST00000302345.6:c.899G>A | ENSP00000307674.2:p.Arg300His | |
| ENST00000392446.9:c.899G>A | ENSP00000376241.4:p.Arg300His | |
| ENST00000588096.1:n.296G>A | ||
| ENST00000591773.5:c.899G>A | ENSP00000467437.1:p.Arg300His | |
| ENST00000592228.1:c.648-1096G>A | ENSP00000466743.1:n.648-1096G>A | |
| ENST00000620915.4:c.899G>A | ENSP00000477798.1:p.Arg300His | |
| NM_001159772.1:c.899G>A | NP_001153244.1:p.Arg300His | |
| NM_001159773.1:c.899G>A | NP_001153245.1:p.Arg300His | |
| NM_138793.3:c.899G>A | NP_620148.1:p.Arg300His | |
| XM_005257020.1:c.899G>A | XP_005257077.1:p.Arg300His | |
| XM_005257021.1:c.899G>A | XP_005257078.1:p.Arg300His | |
| XM_005257022.1:c.899G>A | XP_005257079.1:p.Arg300His | |
| XM_006721683.1:c.899G>A | XP_006721746.1:p.Arg300His | |
| XM_011524291.1:c.899G>A | XP_011522593.1:p.Arg300His | |
| XM_011524292.1:c.899G>A | XP_011522594.1:p.Arg300His | |
| XM_011524293.1:c.899G>A | XP_011522595.1:p.Arg300His | |
| XM_011524294.1:c.899G>A | XP_011522596.1:p.Arg300His | |
| XM_011524295.1:c.899G>A | XP_011522597.1:p.Arg300His | |
| XM_011524294.2:c.899G>A | XP_011522596.1:p.Arg300His | |
| XM_011524295.2:c.899G>A | XP_011522597.1:p.Arg300His | |
| XM_024450564.1:c.899G>A | XP_024306332.1:p.Arg300His | |
| XR_001752424.2:n.1343G>A | ||
| NM_001159773.2:c.899G>A MANE Select | NP_001153245.1:p.Arg300His | |
| NM_001159772.2:c.899G>A | NP_001153244.1:p.Arg300His | |
| NM_138793.4:c.899G>A | NP_620148.1:p.Arg300His |