Linked Data
ClinVar Variation Id:
429390
dbSNP Id:
rs150799088
ExAC:
1:21903915 G / A
gnomAD v2:
1-21903915-G-A
gnomAD v3:
1-21577422-G-A
gnomAD v4:
1-21577422-G-A
COSMIC:
COSM1958811
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21577422G>A , CM000663.2:g.21577422G>A | GRCh38 |
| NC_000001.10:g.21903915G>A , CM000663.1:g.21903915G>A | GRCh37 |
| NC_000001.9:g.21776502G>A | NCBI36 |
| NG_008940.1:g.73058G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374840.8:c.1349G>A MANE Select | ENSP00000363973.3:p.Arg450His | |
| ENST00000374829.2:n.618G>A | ||
| ENST00000374830.2:c.424G>A | ||
| ENST00000374832.5:c.1349G>A | ENSP00000363965.1:p.Arg450His | |
| ENST00000374840.7:c.1349G>A | ENSP00000363973.3:p.Arg450His | |
| ENST00000539907.5:c.1118G>A | ENSP00000437674.1:p.Arg373His | |
| ENST00000540617.5:c.1184G>A | ENSP00000442672.1:p.Arg395His | |
| NM_000478.4:c.1349G>A | NP_000469.3:p.Arg450His | |
| NM_001127501.2:c.1184G>A | NP_001120973.2:p.Arg395His | |
| NM_001177520.1:c.1118G>A | NP_001170991.1:p.Arg373His | |
| XM_005245818.1:c.1349G>A | XP_005245875.1:p.Arg450His | |
| XM_006710546.1:c.1349G>A | XP_006710609.1:p.Arg450His | |
| NM_000478.5:c.1349G>A | NP_000469.3:p.Arg450His | |
| NM_001127501.3:c.1184G>A | NP_001120973.2:p.Arg395His | |
| NM_001177520.2:c.1118G>A | NP_001170991.1:p.Arg373His | |
| XM_006710546.3:c.1349G>A | XP_006710609.1:p.Arg450His | |
| XM_017000903.1:c.1193G>A | XP_016856392.1:p.Arg398His | |
| NM_000478.6:c.1349G>A MANE Select | NP_000469.3:p.Arg450His | |
| NM_001127501.4:c.1184G>A | NP_001120973.2:p.Arg395His | |
| NM_001177520.3:c.1118G>A | NP_001170991.1:p.Arg373His | |
| NM_001369803.2:c.1349G>A | NP_001356732.1:p.Arg450His | |
| NM_001369804.2:c.1349G>A | NP_001356733.1:p.Arg450His | |
| NM_001369805.2:c.1349G>A | NP_001356734.1:p.Arg450His |