Linked Data
ClinVar Variation Id:
40116
ClinVar RCV Id:
RCV000033174
dbSNP Id:
rs397514642
gnomAD v3:
20-45950453-C-T
gnomAD v4:
20-45950453-C-T
PubMed:
PMID:23178126
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45950453C>T , CM000682.2:g.45950453C>T | GRCh38 |
| NC_000020.10:g.44579092C>T , CM000682.1:g.44579092C>T | GRCh37 |
| NC_000020.9:g.44012499C>T | NCBI36 |
| NG_029772.1:g.26742G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322927.3:c.3332G>A MANE Select | ENSP00000325326.2:p.Arg1111His | |
| ENST00000322927.2:c.3332G>A | ENSP00000325326.2:p.Arg1111His | |
| NM_022095.3:c.3332G>A | NP_071378.1:p.Arg1111His | |
| XM_005260504.3:c.3329G>A | XP_005260561.1:p.Arg1110His | |
| XM_005260506.2:c.2804G>A | XP_005260563.1:p.Arg935His | |
| XM_005260504.4:c.3329G>A | XP_005260561.1:p.Arg1110His | |
| XM_017028012.1:c.2804G>A | XP_016883501.1:p.Arg935His | |
| XR_002958500.1:n.5279G>A | ||
| XR_002958501.1:n.3728G>A | ||
| XR_936602.3:n.3843G>A | ||
| NM_022095.4:c.3332G>A MANE Select | NP_071378.1:p.Arg1111His |