Linked Data
ClinVar Variation Id:
471838
dbSNP Id:
rs779338296
gnomAD v2:
5-1280286-C-T
gnomAD v3:
5-1280171-C-T
gnomAD v4:
5-1280171-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1280171C>T , CM000667.2:g.1280171C>T | GRCh38 |
| NC_000005.9:g.1280286C>T , CM000667.1:g.1280286C>T | GRCh37 |
| NC_000005.8:g.1333286C>T | NCBI36 |
| NG_009265.1:g.19877G>A , LRG_343:g.19877G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.1937G>A MANE Select | ENSP00000309572.5:p.Arg646His | |
| ENST00000656021.1:c.*1483G>A | ENSP00000499759.1:n.*1483G>A | |
| ENST00000310581.9:c.1937G>A | ENSP00000309572.5:p.Arg646His | |
| ENST00000334602.10:c.1937G>A | ENSP00000334346.6:p.Arg646His | |
| ENST00000460137.6:c.1937G>A | ENSP00000425003.1:p.Arg646His | |
| ENST00000484238.6:n.750G>A | ||
| ENST00000508104.2:c.1937G>A | ENSP00000426042.2:p.Arg646His | |
| NM_001193376.1:c.1937G>A | NP_001180305.1:p.Arg646His | |
| NM_198253.2:c.1937G>A , LRG_343t1:c.1937G>A | NP_937983.2:p.Arg646His | |
| XM_011514104.1:c.407G>A | XP_011512406.1:p.Arg136His | |
| XM_011514105.1:c.293G>A | XP_011512407.1:p.Arg98His | |
| XM_011514106.1:c.293G>A | XP_011512408.1:p.Arg98His | |
| NR_149162.1:n.1995G>A | ||
| NR_149163.1:n.1995G>A | ||
| NM_001193376.2:c.1937G>A | NP_001180305.1:p.Arg646His | |
| NM_198253.3:c.1937G>A MANE Select | NP_937983.2:p.Arg646His | |
| NR_149162.2:n.2016G>A | ||
| NR_149163.2:n.2016G>A | ||
| NM_001193376.3:c.1937G>A | NP_001180305.1:p.Arg646His | |
| NR_149162.3:n.2016G>A | ||
| NR_149163.3:n.2016G>A |