Linked Data
ClinVar Variation Id:
560007
ClinVar RCV Id:
RCV002257925
dbSNP Id:
rs150036236
ExAC:
7:55259434 G / A
gnomAD v2:
7-55259434-G-A
gnomAD v3:
7-55191741-G-A
gnomAD v4:
7-55191741-G-A
COSMIC:
COSM53105
CIViC:
CA4266102
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55191741G>A , CM000669.2:g.55191741G>A | GRCh38 |
| NC_000007.13:g.55259434G>A , CM000669.1:g.55259434G>A | GRCh37 |
| NC_000007.12:g.55226928G>A | NCBI36 |
| NG_007726.3:g.177710G>A , LRG_304:g.177710G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2333G>A | ENSP00000413354.2:p.Arg778His | |
| ENST00000700145.1:c.841G>A | ||
| ENST00000275493.7:c.2492G>A MANE Select | ENSP00000275493.2:p.Arg831His | |
| ENST00000275493.6:c.2492G>A | ENSP00000275493.2:p.Arg831His | |
| ENST00000442591.5:c.*28+18813G>A | ENSP00000410031.1:n.*28+18813G>A | |
| ENST00000454757.6:c.2357G>A | ENSP00000395243.3:p.Arg786His | |
| ENST00000455089.5:c.2357G>A | ENSP00000415559.1:p.Arg786His | |
| NM_005228.3:c.2492G>A , LRG_304t1:c.2492G>A | NP_005219.2:p.Arg831His | |
| NM_001346897.1:c.2357G>A | NP_001333826.1:p.Arg786His | |
| NM_001346898.1:c.2492G>A | NP_001333827.1:p.Arg831His | |
| NM_001346899.1:c.2357G>A | NP_001333828.1:p.Arg786His | |
| NM_001346900.1:c.2333G>A | NP_001333829.1:p.Arg778His | |
| NM_001346941.1:c.1691G>A | NP_001333870.1:p.Arg564His | |
| NM_005228.4:c.2492G>A | NP_005219.2:p.Arg831His | |
| NM_005228.5:c.2492G>A MANE Select | NP_005219.2:p.Arg831His | |
| NM_001346897.2:c.2357G>A | NP_001333826.1:p.Arg786His | |
| NM_001346898.2:c.2492G>A | NP_001333827.1:p.Arg831His | |
| NM_001346900.2:c.2333G>A | NP_001333829.1:p.Arg778His | |
| NM_001346941.2:c.1691G>A | NP_001333870.1:p.Arg564His | |
| NM_001346899.2:c.2357G>A | NP_001333828.1:p.Arg786His |