Linked Data
ClinVar Variation Id:
297079
dbSNP Id:
rs773902080
ExAC:
1:26795610 T / C
gnomAD v2:
1-26795610-T-C
gnomAD v3:
1-26469119-T-C
gnomAD v4:
1-26469119-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26469119T>C , CM000663.2:g.26469119T>C | GRCh38 |
| NC_000001.10:g.26795610T>C , CM000663.1:g.26795610T>C | GRCh37 |
| NC_000001.9:g.26668197T>C | NCBI36 |
| NG_029786.1:g.41838T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528557.6:c.990T>C | ENSP00000515248.1:p.Thr330= | |
| ENST00000703198.1:c.882T>C | ENSP00000515227.1:p.Thr294= | |
| ENST00000703199.1:c.771T>C | ENSP00000515228.1:p.Thr257= | |
| ENST00000703200.1:c.*748T>C | ENSP00000515229.1:n.*748T>C | |
| ENST00000703201.1:c.*1939T>C | ENSP00000515230.1:n.*1939T>C | |
| ENST00000703202.1:c.846T>C | ENSP00000515231.1:p.Thr282= | |
| ENST00000703203.1:c.*1936T>C | ENSP00000515232.1:n.*1936T>C | |
| ENST00000703262.1:c.*22T>C | ENSP00000515247.1:n.*22T>C | |
| ENST00000703263.1:c.*521T>C | ENSP00000515249.1:n.*521T>C | |
| ENST00000236342.12:c.990T>C MANE Select | ENSP00000236342.7:p.Thr330= | |
| ENST00000236342.11:c.990T>C | ENSP00000236342.7:p.Thr330= | |
| ENST00000360009.6:c.993T>C | ENSP00000353104.2:p.Thr331= | |
| ENST00000431933.5:c.498T>C | ENSP00000399781.1:p.Thr166= | |
| ENST00000434391.6:c.*791T>C | ENSP00000403529.2:n.*791T>C | |
| ENST00000525682.6:c.888T>C | ENSP00000434984.1:p.Thr296= | |
| ENST00000526219.5:c.873T>C | ENSP00000434219.1:p.Thr291= | |
| NM_001243564.1:c.888T>C | NP_001230493.1:p.Thr296= | |
| NM_001243565.1:c.873T>C | NP_001230494.1:p.Thr291= | |
| NM_024887.3:c.993T>C | NP_079163.2:p.Thr331= | |
| NM_205861.2:c.990T>C | NP_995583.1:p.Thr330= | |
| XM_006710912.1:c.993T>C | XP_006710975.1:p.Thr331= | |
| XM_006710913.1:c.993T>C | XP_006710976.1:p.Thr331= | |
| XM_006710914.1:c.993T>C | XP_006710977.1:p.Thr331= | |
| XM_006710915.1:c.891T>C | XP_006710978.1:p.Thr297= | |
| XM_006710916.1:c.714T>C | XP_006710979.1:p.Thr238= | |
| XM_006710917.1:c.714T>C | XP_006710980.1:p.Thr238= | |
| XM_006710918.1:c.714T>C | XP_006710981.1:p.Thr238= | |
| XM_006710919.1:c.711T>C | XP_006710982.1:p.Thr237= | |
| XM_011542183.1:c.993T>C | XP_011540485.1:p.Thr331= | |
| XM_011542184.1:c.990T>C | XP_011540486.1:p.Thr330= | |
| XM_011542185.1:c.891T>C | XP_011540487.1:p.Thr297= | |
| XM_011542186.1:c.888T>C | XP_011540488.1:p.Thr296= | |
| NM_001319959.1:c.711T>C | NP_001306888.1:p.Thr237= | |
| NM_205861.3:c.990T>C MANE Select | NP_995583.1:p.Thr330= | |
| NM_001243564.2:c.888T>C | NP_001230493.1:p.Thr296= | |
| NM_001243565.2:c.873T>C | NP_001230494.1:p.Thr291= | |
| NM_001319959.2:c.711T>C | NP_001306888.1:p.Thr237= | |
| NM_024887.4:c.993T>C | NP_079163.2:p.Thr331= |