Linked Data
ClinVar Variation Id:
41485
dbSNP Id:
rs398123012
ExAC:
9:35738808 G / A
gnomAD v2:
9-35738808-G-A
gnomAD v3:
9-35738811-G-A
gnomAD v4:
9-35738811-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35738811G>A , CM000671.2:g.35738811G>A | GRCh38 |
| NC_000009.11:g.35738808G>A , CM000671.1:g.35738808G>A | GRCh37 |
| NC_000009.10:g.35728808G>A | NCBI36 |
| NG_033899.1:g.15418C>T | |
| NG_046983.1:g.11492G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378094.4:c.1888C>T | ENSP00000367334.4:p.Arg630Trp | |
| ENST00000378103.7:c.1888C>T MANE Select | ENSP00000367343.3:p.Arg630Trp | |
| ENST00000467252.5:n.1460C>T | ||
| ENST00000486797.1:n.133C>T | ||
| ENST00000488292.1:n.202C>T | ||
| NM_020944.2:c.1888C>T | NP_065995.1:p.Arg630Trp | |
| XM_005251526.3:c.1899+7C>T | XP_005251583.1:n.1899+7C>T | |
| XM_006716809.2:c.1906C>T | XP_006716872.1:p.Arg636Trp | |
| XM_011517969.1:c.1924C>T | XP_011516271.1:p.Arg642Trp | |
| XM_011517970.1:c.1906C>T | XP_011516272.1:p.Arg636Trp | |
| XM_011517971.1:c.1917+7C>T | XP_011516273.1:n.1917+7C>T | |
| XM_011517972.1:c.1924C>T | XP_011516274.1:p.Arg642Trp | |
| XM_011517973.1:c.1888C>T | XP_011516275.1:p.Arg630Trp | |
| XM_011517974.1:c.1687C>T | XP_011516276.1:p.Arg563Trp | |
| XM_011517975.1:c.1471C>T | XP_011516277.1:p.Arg491Trp | |
| XM_011517976.1:c.1453C>T | XP_011516278.1:p.Arg485Trp | |
| XM_011517977.1:c.1369C>T | XP_011516279.1:p.Arg457Trp | |
| XM_011517978.1:c.1351C>T | XP_011516280.1:p.Arg451Trp | |
| XM_011517979.1:c.1351C>T | XP_011516281.1:p.Arg451Trp | |
| NM_001330660.1:c.1888C>T | NP_001317589.1:p.Arg630Trp | |
| XM_005251526.5:c.1899+7C>T | XP_005251583.1:n.1899+7C>T | |
| XM_006716809.4:c.1906C>T | XP_006716872.1:p.Arg636Trp | |
| XM_017014937.2:c.1881+7C>T | XP_016870426.1:n.1881+7C>T | |
| XM_017014938.2:c.1906C>T | XP_016870427.1:p.Arg636Trp | |
| XM_017014939.2:c.1881+7C>T | XP_016870428.1:n.1881+7C>T | |
| XM_017014940.2:c.1669C>T | XP_016870429.1:p.Arg557Trp | |
| XM_017014941.2:c.1669C>T | XP_016870430.1:p.Arg557Trp | |
| XM_017014942.2:c.1453C>T | XP_016870431.1:p.Arg485Trp | |
| XM_017014943.2:c.1435C>T | XP_016870432.1:p.Arg479Trp | |
| XM_017014944.1:c.1351C>T | XP_016870433.1:p.Arg451Trp | |
| XM_017014945.1:c.1333C>T | XP_016870434.1:p.Arg445Trp | |
| XM_017014946.2:c.1027C>T | XP_016870435.1:p.Arg343Trp | |
| NM_020944.3:c.1888C>T MANE Select | NP_065995.1:p.Arg630Trp | |
| NM_001330660.2:c.1888C>T | NP_001317589.1:p.Arg630Trp |