Linked Data
ClinVar Variation Id:
8135
ClinVar RCV Id:
RCV000008611
dbSNP Id:
rs28936407
gnomAD v2:
3-12458330-G-A
gnomAD v3:
3-12416831-G-A
gnomAD v4:
3-12416831-G-A
PubMed:
PMID:10394368
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12416831G>A , CM000665.2:g.12416831G>A | GRCh38 |
| NC_000003.11:g.12458330G>A , CM000665.1:g.12458330G>A | GRCh37 |
| NC_000003.10:g.12433330G>A | NCBI36 |
| NG_011749.1:g.133982G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681966.1:c.*111G>A | ENSP00000507572.1:n.*111G>A | |
| ENST00000681982.1:c.857G>A | ENSP00000508065.1:p.Arg286His | |
| ENST00000682125.1:n.902G>A | ||
| ENST00000682446.1:c.857G>A | ENSP00000506813.1:p.Arg286His | |
| ENST00000682494.1:n.3757G>A | ||
| ENST00000682604.1:n.1100G>A | ||
| ENST00000683586.1:c.857G>A | ENSP00000507893.1:p.Arg286His | |
| ENST00000683699.1:c.819+10750G>A | ENSP00000507823.1:n.819+10750G>A | |
| ENST00000683700.1:c.710G>A | ENSP00000508248.1:p.Arg237His | |
| ENST00000684065.1:c.*466+10750G>A | ENSP00000508347.1:n.*466+10750G>A | |
| ENST00000684094.1:n.1499G>A | ||
| ENST00000309576.11:c.857G>A | ENSP00000312472.7:p.Arg286His | |
| ENST00000396999.3:c.*445G>A | ENSP00000380195.3:n.*445G>A | |
| ENST00000397000.6:c.729+10750G>A | ENSP00000380196.2:n.729+10750G>A | |
| ENST00000397010.7:c.857G>A | ENSP00000380205.3:p.Arg286His | |
| ENST00000397015.7:c.857G>A | ENSP00000380210.3:p.Arg286His | |
| ENST00000397026.7:c.857G>A | ENSP00000380221.3:p.Arg286His | |
| ENST00000643197.2:c.857G>A | ENSP00000495840.2:p.Arg286His | |
| ENST00000643888.2:c.857G>A | ENSP00000494934.2:p.Arg286His | |
| ENST00000644622.2:c.857G>A | ENSP00000494873.2:p.Arg286His | |
| ENST00000651735.1:c.857G>A MANE Select | ENSP00000498313.1:p.Arg286His | |
| ENST00000652098.1:c.311G>A | ENSP00000498300.1:p.Arg104His | |
| ENST00000652431.1:c.545G>A | ENSP00000498717.1:p.Arg182His | |
| ENST00000652522.1:c.857G>A | ENSP00000498500.1:p.Arg286His | |
| ENST00000287820.10:c.947G>A | ENSP00000287820.6:p.Arg316His | |
| ENST00000309576.10:c.863G>A | ENSP00000312472.6:p.Arg288His | |
| ENST00000396999.2:c.1006G>A | ENSP00000380195.2:n.1006G>A | |
| ENST00000397000.5:c.735+10750G>A | ENSP00000380196.1:n.735+10750G>A | |
| ENST00000397010.6:c.863G>A | ENSP00000380205.2:p.Arg288His | |
| ENST00000397012.6:c.863G>A | ENSP00000380207.2:p.Arg288His | |
| ENST00000397015.6:c.863G>A | ENSP00000380210.2:p.Arg288His | |
| ENST00000397023.5:c.*1085G>A | ENSP00000380218.1:n.*1085G>A | |
| ENST00000397026.6:c.881G>A | ENSP00000380221.2:p.Arg294His | |
| NM_005037.5:c.863G>A | NP_005028.4:p.Arg288His | |
| NM_015869.4:c.947G>A | NP_056953.2:p.Arg316His | |
| NM_138711.3:c.863G>A | NP_619725.2:p.Arg288His | |
| NM_138712.3:c.863G>A | NP_619726.2:p.Arg288His | |
| XM_011533840.1:c.863G>A | XP_011532142.1:p.Arg288His | |
| XM_011533841.1:c.863G>A | XP_011532143.1:p.Arg288His | |
| XM_011533842.1:c.947G>A | XP_011532144.1:p.Arg316His | |
| XM_011533843.1:c.819+10750G>A | XP_011532145.1:n.819+10750G>A | |
| XM_011533844.1:c.735+10750G>A | XP_011532146.1:n.735+10750G>A | |
| NM_001330615.1:c.735+10750G>A | NP_001317544.1:n.735+10750G>A | |
| NM_001354666.1:c.863G>A | NP_001341595.1:p.Arg288His | |
| NM_001354667.1:c.863G>A | NP_001341596.1:p.Arg288His | |
| NM_001354669.1:c.230G>A | NP_001341598.1:p.Arg77His | |
| XM_011533842.2:c.947G>A | XP_011532144.1:p.Arg316His | |
| XM_011533843.2:c.819+10750G>A | XP_011532145.1:n.819+10750G>A | |
| XM_024453604.1:c.863G>A | XP_024309372.1:p.Arg288His | |
| XM_024453605.1:c.863G>A | XP_024309373.1:p.Arg288His | |
| XM_024453606.1:c.863G>A | XP_024309374.1:p.Arg288His | |
| NM_001330615.2:c.735+10750G>A | NP_001317544.1:n.735+10750G>A | |
| NM_001354666.2:c.863G>A | NP_001341595.1:p.Arg288His | |
| NM_001354667.2:c.863G>A | NP_001341596.1:p.Arg288His | |
| NM_001354669.2:c.230G>A | NP_001341598.1:p.Arg77His | |
| NM_001374261.1:c.735+10750G>A | NP_001361190.1:n.735+10750G>A | |
| NM_001374262.1:c.735+10750G>A | NP_001361191.1:n.735+10750G>A | |
| NM_001374263.1:c.863G>A | NP_001361192.1:p.Arg288His | |
| NM_001374264.1:c.863G>A | NP_001361193.1:p.Arg288His | |
| NM_001374265.1:c.819+10750G>A | NP_001361194.1:n.819+10750G>A | |
| NM_001374266.1:c.653+10832G>A | NP_001361195.1:n.653+10832G>A | |
| NM_005037.6:c.863G>A | NP_005028.4:p.Arg288His | |
| NM_015869.5:c.947G>A | NP_056953.2:p.Arg316His | |
| NM_138711.4:c.863G>A | NP_619725.2:p.Arg288His | |
| NM_138712.4:c.863G>A | NP_619726.2:p.Arg288His | |
| NM_001330615.4:c.729+10750G>A | NP_001317544.2:n.729+10750G>A | |
| NM_001354666.3:c.857G>A | NP_001341595.2:p.Arg286His | |
| NM_001354667.3:c.857G>A | NP_001341596.2:p.Arg286His | |
| NM_001374261.3:c.729+10750G>A | NP_001361190.2:n.729+10750G>A | |
| NM_001374262.3:c.729+10750G>A | NP_001361191.2:n.729+10750G>A | |
| NM_001374263.2:c.857G>A | NP_001361192.2:p.Arg286His | |
| NM_001374264.2:c.857G>A | NP_001361193.2:p.Arg286His | |
| NM_005037.7:c.857G>A | NP_005028.5:p.Arg286His | |
| NM_138711.6:c.857G>A MANE Select | NP_619725.3:p.Arg286His | |
| NM_138712.5:c.857G>A | NP_619726.3:p.Arg286His |