Linked Data
ClinVar Variation Id:
1946969
ClinVar RCV Id:
RCV002654117
dbSNP Id:
rs1233934840
gnomAD v2:
X-68836367-G-A
gnomAD v3:
X-69616523-G-A
gnomAD v4:
X-69616523-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.69616523G>A , CM000685.2:g.69616523G>A | GRCh38 |
| NC_000023.10:g.68836367G>A , CM000685.1:g.68836367G>A | GRCh37 |
| NC_000023.9:g.68753092G>A | NCBI36 |
| NG_009809.1:g.5457G>A | |
| NG_009809.2:g.5457G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.215G>A MANE Select | ENSP00000363680.4:p.Arg72His | |
| ENST00000338901.4:c.215G>A | ENSP00000340611.4:p.Arg72His | |
| ENST00000374548.5:n.457G>A | ||
| ENST00000374552.8:c.215G>A | ENSP00000363680.4:p.Arg72His | |
| ENST00000374553.6:c.215G>A | ENSP00000363681.2:p.Arg72His | |
| ENST00000502251.5:n.457G>A | ||
| ENST00000524573.5:c.215G>A | ENSP00000432585.1:p.Arg72His | |
| ENST00000525810.5:c.215G>A | ENSP00000434195.1:p.Arg72His | |
| ENST00000527388.5:c.215G>A | ENSP00000434861.1:p.Arg72His | |
| ENST00000533317.5:n.457G>A | ||
| NM_001005609.1:c.215G>A | NP_001005609.1:p.Arg72His | |
| NM_001005610.3:c.215G>A | NP_001005610.2:p.Arg72His | |
| NM_001005612.2:c.215G>A | NP_001005612.2:p.Arg72His | |
| NM_001005613.3:c.215G>A | NP_001005613.1:p.Arg72His | |
| NM_001399.4:c.215G>A | NP_001390.1:p.Arg72His | |
| XM_006724630.2:c.215G>A | XP_006724693.1:p.Arg72His | |
| XM_011530885.1:c.215G>A | XP_011529187.1:p.Arg72His | |
| XM_011530885.2:c.215G>A | XP_011529187.1:p.Arg72His | |
| XM_017029336.1:c.215G>A | XP_016884825.1:p.Arg72His | |
| XM_017029337.1:c.215G>A | XP_016884826.1:p.Arg72His | |
| XR_001755660.1:n.438G>A | ||
| NM_001399.5:c.215G>A MANE Select | NP_001390.1:p.Arg72His | |
| NM_001005609.2:c.215G>A | NP_001005609.1:p.Arg72His | |
| NM_001005610.4:c.215G>A | NP_001005610.2:p.Arg72His | |
| NM_001005612.3:c.215G>A | NP_001005612.2:p.Arg72His | |
| NM_001005613.4:c.215G>A | NP_001005613.1:p.Arg72His |