Linked Data
ClinVar Variation Id:
1431953
ClinVar RCV Id:
RCV001941015
dbSNP Id:
rs143470723
ExAC:
3:169514551 C / T
gnomAD v2:
3-169514551-C-T
gnomAD v3:
3-169796763-C-T
gnomAD v4:
3-169796763-C-T
COSMIC:
COSM1040987
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169796763C>T , CM000665.2:g.169796763C>T | GRCh38 |
| NC_000003.11:g.169514551C>T , CM000665.1:g.169514551C>T | GRCh37 |
| NC_000003.10:g.170997245C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446859.7:c.890G>A MANE Select | ENSP00000414635.1:p.Arg297His | |
| ENST00000446859.5:c.890G>A | ENSP00000414635.1:p.Arg297His | |
| ENST00000522080.5:n.867G>A | ||
| ENST00000522329.1:n.139G>A | ||
| ENST00000522526.6:c.794G>A | ENSP00000429278.2:p.Arg265His | |
| ENST00000522596.6:n.872G>A | ||
| ENST00000522830.5:c.707G>A | ENSP00000429593.1:p.Arg236His | |
| ENST00000524054.5:n.738G>A | ||
| ENST00000524327.5:n.690G>A | ||
| ENST00000528597.1:c.137G>A | ENSP00000436883.1:p.Arg46His | |
| ENST00000602774.1:n.276G>A | ||
| NM_001172779.1:c.890G>A | NP_001166250.1:p.Arg297His | |
| NM_001172780.1:c.890G>A | NP_001166251.1:p.Arg297His | |
| NM_153353.4:c.794G>A | NP_699184.2:p.Arg265His | |
| XM_005247133.2:c.707G>A | XP_005247190.1:p.Arg236His | |
| XM_006713508.2:c.836G>A | XP_006713571.1:p.Arg279His | |
| XM_011512442.1:c.887G>A | XP_011510744.1:p.Arg296His | |
| NM_001363888.1:c.707G>A | NP_001350817.1:p.Arg236His | |
| XM_006713508.4:c.836G>A | XP_006713571.1:p.Arg279His | |
| XM_011512442.2:c.887G>A | XP_011510744.1:p.Arg296His | |
| XM_017005746.1:c.704G>A | XP_016861235.1:p.Arg235His | |
| NM_001172779.2:c.890G>A MANE Select | NP_001166250.1:p.Arg297His | |
| NM_001172780.2:c.890G>A | NP_001166251.1:p.Arg297His | |
| NM_001363888.2:c.707G>A | NP_001350817.1:p.Arg236His | |
| NM_001370608.1:c.704G>A | NP_001357537.1:p.Arg235His | |
| NM_001370609.1:c.707G>A | NP_001357538.1:p.Arg236His | |
| NM_153353.5:c.794G>A | NP_699184.2:p.Arg265His |