Linked Data
ClinVar Variation Id:
6472
ClinVar RCV Id:
RCV000006845
dbSNP Id:
rs121908857
gnomAD v3:
4-71472728-G-A
gnomAD v4:
4-71472728-G-A
PubMed:
PMID:10545938
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71472728G>A , CM000666.2:g.71472728G>A | GRCh38 |
| NC_000004.11:g.72338445G>A , CM000666.1:g.72338445G>A | GRCh37 |
| NC_000004.10:g.72557309G>A | NCBI36 |
| NG_012653.1:g.290443G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698522.1:c.1757G>A | ENSP00000513771.1:p.Arg586His | |
| ENST00000264485.11:c.1661G>A MANE Select | ENSP00000264485.5:p.Arg554His | |
| ENST00000340595.4:c.1529G>A MANE Plus Clinical | ENSP00000344272.3:p.Arg510His | |
| ENST00000649996.1:c.1661G>A | ENSP00000497468.1:p.Arg554His | |
| ENST00000264485.9:c.1661G>A | ENSP00000264485.5:p.Arg554His | |
| ENST00000340595.3:c.1529G>A | ENSP00000344272.3:p.Arg510His | |
| ENST00000351898.10:c.1661G>A | ENSP00000307349.7:p.Arg554His | |
| ENST00000425175.5:c.1661G>A | ENSP00000393557.1:p.Arg554His | |
| ENST00000512686.5:c.1529G>A | ENSP00000422400.1:p.Arg510His | |
| ENST00000514331.1:n.1590G>A | ||
| NM_001098484.2:c.1661G>A | NP_001091954.1:p.Arg554His | |
| NM_001134742.1:c.1661G>A | NP_001128214.1:p.Arg554His | |
| NM_003759.3:c.1529G>A | NP_003750.1:p.Arg510His | |
| XM_011532390.1:c.1103G>A | XP_011530692.1:p.Arg368His | |
| XM_011532390.2:c.1103G>A | XP_011530692.1:p.Arg368His | |
| XM_017008792.1:c.1436G>A | XP_016864281.1:p.Arg479His | |
| XM_017008793.1:c.1145G>A | XP_016864282.1:p.Arg382His | |
| XM_024454267.1:c.1754G>A | XP_024310035.1:p.Arg585His | |
| XM_024454268.1:c.1676G>A | XP_024310036.1:p.Arg559His | |
| XM_024454269.1:c.1676G>A | XP_024310037.1:p.Arg559His | |
| XM_024454270.1:c.1661G>A | XP_024310038.1:p.Arg554His | |
| XM_024454271.1:c.1661G>A | XP_024310039.1:p.Arg554His | |
| XM_024454272.1:c.1661G>A | XP_024310040.1:p.Arg554His | |
| NM_001098484.3:c.1661G>A MANE Select | NP_001091954.1:p.Arg554His | |
| NM_001134742.2:c.1661G>A | NP_001128214.1:p.Arg554His | |
| NM_003759.4:c.1529G>A MANE Plus Clinical | NP_003750.1:p.Arg510His |