Linked Data
ClinVar Variation Id:
235131
ClinVar RCV Id:
RCV000223936
dbSNP Id:
rs876661403
PubMed:
PMID:26195043
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88872452G>C , CM000676.2:g.88872452G>C | GRCh38 |
| NC_000014.8:g.89338796G>C , CM000676.1:g.89338796G>C | GRCh37 |
| NC_000014.7:g.88408549G>C | NCBI36 |
| NG_008126.1:g.52819G>C | |
| NG_008126.2:g.53300G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380656.7:c.1347G>C MANE Select | ENSP00000370031.2:p.Gln449His | |
| ENST00000557580.3:c.712G>C | ENSP00000451955.2:n.712G>C | |
| ENST00000338104.10:c.1395G>C | ENSP00000337653.6:p.Gln465His | |
| ENST00000345383.9:c.1347G>C | ENSP00000339486.6:p.Gln449His | |
| ENST00000346301.8:c.1227G>C | ENSP00000298324.6:p.Gln409His | |
| ENST00000354441.10:c.552G>C | ENSP00000346427.6:p.Gln184His | |
| ENST00000358622.9:c.753G>C | ENSP00000351439.5:p.Gln251His | |
| ENST00000380656.6:c.1347G>C | ENSP00000370031.2:p.Gln449His | |
| ENST00000536576.5:c.1227G>C | ENSP00000445067.2:p.Gln409His | |
| ENST00000554686.5:c.1196G>C | ||
| ENST00000555057.5:c.*754G>C | ENSP00000450951.1:n.*754G>C | |
| ENST00000557580.2:c.712G>C | ||
| ENST00000614125.4:c.1395G>C | ENSP00000482306.1:p.Gln465His | |
| ENST00000622513.4:c.1317G>C | ENSP00000482721.1:p.Gln439His | |
| NM_001288781.1:c.1395G>C | NP_001275710.1:p.Gln465His | |
| NM_001288782.1:c.753G>C | NP_001275711.1:p.Gln251His | |
| NM_001288783.1:c.630G>C | NP_001275712.1:p.Gln210His | |
| NM_144596.3:c.1347G>C | NP_653197.2:p.Gln449His | |
| NM_198309.3:c.1317G>C | NP_938051.1:p.Gln439His | |
| NM_198310.3:c.1227G>C | NP_938052.1:p.Gln409His | |
| XM_006720035.1:c.1317G>C | XP_006720098.1:p.Gln439His | |
| XM_006720037.2:c.1227G>C | XP_006720100.1:p.Gln409His | |
| XM_011536432.1:c.1395G>C | XP_011534734.1:p.Gln465His | |
| XM_011536433.1:c.1395G>C | XP_011534735.1:p.Gln465His | |
| XM_011536434.1:c.1305G>C | XP_011534736.1:p.Gln435His | |
| XM_011536435.1:c.630G>C | XP_011534737.1:p.Gln210His | |
| NM_001366535.1:c.1317G>C | NP_001353464.1:p.Gln439His | |
| NM_001366536.1:c.1227G>C | NP_001353465.1:p.Gln409His | |
| NR_159362.1:n.1434G>C | ||
| XM_011536433.2:c.1395G>C | XP_011534735.1:p.Gln465His | |
| XM_011536434.2:c.1305G>C | XP_011534736.1:p.Gln435His | |
| XM_024449477.1:c.630G>C | XP_024305245.1:p.Gln210His | |
| NM_001366535.2:c.1317G>C | NP_001353464.1:p.Gln439His | |
| NM_001366536.2:c.1227G>C | NP_001353465.1:p.Gln409His | |
| NR_159362.2:n.1434G>C | ||
| NM_144596.4:c.1347G>C MANE Select | NP_653197.2:p.Gln449His |