Linked Data
ClinVar Variation Id:
458301
dbSNP Id:
rs142621039
ExAC:
9:35738146 C / T
gnomAD v2:
9-35738146-C-T
gnomAD v3:
9-35738149-C-T
gnomAD v4:
9-35738149-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35738149C>T , CM000671.2:g.35738149C>T | GRCh38 |
| NC_000009.11:g.35738146C>T , CM000671.1:g.35738146C>T | GRCh37 |
| NC_000009.10:g.35728146C>T | NCBI36 |
| NG_033899.1:g.16080G>A | |
| NG_046983.1:g.10830C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378088.1:c.104G>A | ENSP00000367328.1:p.Arg35His | |
| ENST00000378094.4:c.2201G>A | ENSP00000367334.4:p.Arg734His | |
| ENST00000378103.7:c.2201G>A MANE Select | ENSP00000367343.3:p.Arg734His | |
| ENST00000467252.5:n.1773G>A | ||
| ENST00000486797.1:n.676G>A | ||
| NM_020944.2:c.2201G>A | NP_065995.1:p.Arg734His | |
| XM_005251526.3:c.2153G>A | XP_005251583.1:p.Arg718His | |
| XM_006716809.2:c.2219G>A | XP_006716872.1:p.Arg740His | |
| XM_011517969.1:c.2237G>A | XP_011516271.1:p.Arg746His | |
| XM_011517970.1:c.2219G>A | XP_011516272.1:p.Arg740His | |
| XM_011517971.1:c.2171G>A | XP_011516273.1:p.Arg724His | |
| XM_011517972.1:c.2237G>A | XP_011516274.1:p.Arg746His | |
| XM_011517973.1:c.2201G>A | XP_011516275.1:p.Arg734His | |
| XM_011517974.1:c.2000G>A | XP_011516276.1:p.Arg667His | |
| XM_011517975.1:c.1784G>A | XP_011516277.1:p.Arg595His | |
| XM_011517976.1:c.1766G>A | XP_011516278.1:p.Arg589His | |
| XM_011517977.1:c.1682G>A | XP_011516279.1:p.Arg561His | |
| XM_011517978.1:c.1664G>A | XP_011516280.1:p.Arg555His | |
| XM_011517979.1:c.1664G>A | XP_011516281.1:p.Arg555His | |
| NM_001330660.1:c.2201G>A | NP_001317589.1:p.Arg734His | |
| XM_005251526.5:c.2153G>A | XP_005251583.1:p.Arg718His | |
| XM_006716809.4:c.2219G>A | XP_006716872.1:p.Arg740His | |
| XM_017014937.2:c.2135G>A | XP_016870426.1:p.Arg712His | |
| XM_017014938.2:c.2219G>A | XP_016870427.1:p.Arg740His | |
| XM_017014939.2:c.2135G>A | XP_016870428.1:p.Arg712His | |
| XM_017014940.2:c.1982G>A | XP_016870429.1:p.Arg661His | |
| XM_017014941.2:c.1982G>A | XP_016870430.1:p.Arg661His | |
| XM_017014942.2:c.1766G>A | XP_016870431.1:p.Arg589His | |
| XM_017014943.2:c.1748G>A | XP_016870432.1:p.Arg583His | |
| XM_017014944.1:c.1664G>A | XP_016870433.1:p.Arg555His | |
| XM_017014945.1:c.1646G>A | XP_016870434.1:p.Arg549His | |
| XM_017014946.2:c.1340G>A | XP_016870435.1:p.Arg447His | |
| NM_020944.3:c.2201G>A MANE Select | NP_065995.1:p.Arg734His | |
| NM_001330660.2:c.2201G>A | NP_001317589.1:p.Arg734His |