Linked Data
dbSNP Id:
rs767024820
ExAC:
11:121429317 A / T
gnomAD v2:
11-121429317-A-T
gnomAD v4:
11-121558608-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121558608A>T , CM000673.2:g.121558608A>T | GRCh38 |
| NC_000011.9:g.121429317A>T , CM000673.1:g.121429317A>T | GRCh37 |
| NC_000011.8:g.120934527A>T | NCBI36 |
| NG_023313.1:g.111357A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.2681A>T MANE Select | ENSP00000260197.6:p.Asp894Val | |
| ENST00000260197.11:c.2681A>T | ENSP00000260197.6:p.Asp894Val | |
| ENST00000524873.1:n.409A>T | ||
| ENST00000529445.1:n.387A>T | ||
| NM_003105.5:c.2681A>T | NP_003096.1:p.Asp894Val | |
| XM_011542963.1:c.2681A>T | XP_011541265.1:p.Asp894Val | |
| XM_011542964.1:c.2681A>T | XP_011541266.1:p.Asp894Val | |
| XM_011542965.1:c.1142A>T | XP_011541267.1:p.Asp381Val | |
| XM_011542966.1:c.41A>T | XP_011541268.1:p.Asp14Val | |
| XM_011542963.3:c.2681A>T | XP_011541265.1:p.Asp894Val | |
| XM_011542965.3:c.1142A>T | XP_011541267.1:p.Asp381Val | |
| XM_017018169.2:c.2369A>T | XP_016873658.1:p.Asp790Val | |
| XM_017018170.2:c.2156A>T | XP_016873659.1:p.Asp719Val | |
| XM_017018171.1:c.2681A>T | XP_016873660.1:p.Asp894Val | |
| XM_017018172.2:c.41A>T | XP_016873661.1:p.Asp14Val | |
| NM_003105.6:c.2681A>T MANE Select | NP_003096.2:p.Asp894Val |