Linked Data
ClinVar Variation Id:
459947
ClinVar RCV Id:
RCV000551437
dbSNP Id:
rs748275416
ExAC:
19:13008224 G / A
gnomAD v2:
19-13008224-G-A
gnomAD v3:
19-12897410-G-A
gnomAD v4:
19-12897410-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12897410G>A , CM000681.2:g.12897410G>A | GRCh38 |
| NC_000019.9:g.13008224G>A , CM000681.1:g.13008224G>A | GRCh37 |
| NC_000019.8:g.12869224G>A | NCBI36 |
| NG_009292.1:g.11251G>A | |
| NG_033049.1:g.26863C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.1064G>A MANE Select | ENSP00000222214.4:p.Arg355His | |
| ENST00000222214.9:c.1064G>A | ENSP00000222214.4:p.Arg355His | |
| ENST00000421816.6:n.1042G>A | ||
| ENST00000585420.5:n.1394G>A | ||
| ENST00000590472.5:c.108G>A | ||
| ENST00000590530.5:c.*504G>A | ENSP00000468452.1:n.*504G>A | |
| ENST00000591043.1:n.1100G>A | ||
| ENST00000591050.1:c.31G>A | ||
| ENST00000591470.5:c.1064G>A | ENSP00000466845.1:p.Arg355His | |
| NM_000159.3:c.1064G>A | NP_000150.1:p.Arg355His | |
| NM_013976.3:c.1064G>A | NP_039663.1:p.Arg355His | |
| NR_102316.1:n.1227G>A | ||
| NR_102317.1:n.1445G>A | ||
| XM_006722721.2:c.1064G>A | XP_006722784.1:p.Arg355His | |
| XM_011527899.1:c.1064G>A | XP_011526201.1:p.Arg355His | |
| XM_011527900.1:c.1064G>A | XP_011526202.1:p.Arg355His | |
| XM_011527899.2:c.1064G>A | XP_011526201.1:p.Arg355His | |
| XM_011527900.2:c.1064G>A | XP_011526202.1:p.Arg355His | |
| XM_017026580.1:c.1064G>A | XP_016882069.1:p.Arg355His | |
| NM_000159.4:c.1064G>A MANE Select | NP_000150.1:p.Arg355His | |
| NM_013976.4:c.1064G>A | NP_039663.1:p.Arg355His | |
| NM_013976.5:c.1064G>A | NP_039663.1:p.Arg355His |