Linked Data
ClinVar Variation Id:
92166
ClinVar RCV Id:
RCV000077800
dbSNP Id:
rs398123064
PubMed:
PMID:24252062
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35739017C>G , CM000671.2:g.35739017C>G | GRCh38 |
| NC_000009.11:g.35739014C>G , CM000671.1:g.35739014C>G | GRCh37 |
| NC_000009.10:g.35729014C>G | NCBI36 |
| NG_033899.1:g.15212G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378094.4:c.1780G>C | ENSP00000367334.4:p.Asp594His | |
| ENST00000378103.7:c.1780G>C MANE Select | ENSP00000367343.3:p.Asp594His | |
| ENST00000467252.5:n.1352G>C | ||
| ENST00000486797.1:n.25G>C | ||
| ENST00000488292.1:n.94G>C | ||
| NM_020944.2:c.1780G>C | NP_065995.1:p.Asp594His | |
| XM_005251526.3:c.1798G>C | XP_005251583.1:p.Asp600His | |
| XM_006716809.2:c.1798G>C | XP_006716872.1:p.Asp600His | |
| XM_011517969.1:c.1798G>C | XP_011516271.1:p.Asp600His | |
| XM_011517970.1:c.1780G>C | XP_011516272.1:p.Asp594His | |
| XM_011517971.1:c.1798G>C | XP_011516273.1:p.Asp600His | |
| XM_011517972.1:c.1798G>C | XP_011516274.1:p.Asp600His | |
| XM_011517973.1:c.1780G>C | XP_011516275.1:p.Asp594His | |
| XM_011517974.1:c.1561G>C | XP_011516276.1:p.Asp521His | |
| XM_011517975.1:c.1345G>C | XP_011516277.1:p.Asp449His | |
| XM_011517976.1:c.1327G>C | XP_011516278.1:p.Asp443His | |
| XM_011517977.1:c.1243G>C | XP_011516279.1:p.Asp415His | |
| XM_011517978.1:c.1225G>C | XP_011516280.1:p.Asp409His | |
| XM_011517979.1:c.1225G>C | XP_011516281.1:p.Asp409His | |
| NM_001330660.1:c.1780G>C | NP_001317589.1:p.Asp594His | |
| XM_005251526.5:c.1798G>C | XP_005251583.1:p.Asp600His | |
| XM_006716809.4:c.1798G>C | XP_006716872.1:p.Asp600His | |
| XM_017014937.2:c.1780G>C | XP_016870426.1:p.Asp594His | |
| XM_017014938.2:c.1798G>C | XP_016870427.1:p.Asp600His | |
| XM_017014939.2:c.1780G>C | XP_016870428.1:p.Asp594His | |
| XM_017014940.2:c.1561G>C | XP_016870429.1:p.Asp521His | |
| XM_017014941.2:c.1561G>C | XP_016870430.1:p.Asp521His | |
| XM_017014942.2:c.1345G>C | XP_016870431.1:p.Asp449His | |
| XM_017014943.2:c.1327G>C | XP_016870432.1:p.Asp443His | |
| XM_017014944.1:c.1243G>C | XP_016870433.1:p.Asp415His | |
| XM_017014945.1:c.1225G>C | XP_016870434.1:p.Asp409His | |
| XM_017014946.2:c.919G>C | XP_016870435.1:p.Asp307His | |
| NM_020944.3:c.1780G>C MANE Select | NP_065995.1:p.Asp594His | |
| NM_001330660.2:c.1780G>C | NP_001317589.1:p.Asp594His |