Linked Data
dbSNP Id:
rs373079871
ExAC:
11:121475822 A / T
gnomAD v2:
11-121475822-A-T
gnomAD v3:
11-121605113-A-T
gnomAD v4:
11-121605113-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121605113A>T , CM000673.2:g.121605113A>T | GRCh38 |
| NC_000011.9:g.121475822A>T , CM000673.1:g.121475822A>T | GRCh37 |
| NC_000011.8:g.120981032A>T | NCBI36 |
| NG_023313.1:g.157862A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260197.12:c.4652A>T MANE Select | ENSP00000260197.6:p.Asp1551Val | |
| ENST00000260197.11:c.4652A>T | ENSP00000260197.6:p.Asp1551Val | |
| ENST00000525532.5:c.1484A>T | ENSP00000434634.1:p.Asp495Val | |
| ENST00000527934.1:c.497A>T | ENSP00000435405.1:p.Asp166Val | |
| ENST00000532694.5:c.1190A>T | ENSP00000432131.1:p.Asp397Val | |
| ENST00000534286.5:c.1382A>T | ENSP00000436447.1:p.Asp461Val | |
| NM_003105.5:c.4652A>T | NP_003096.1:p.Asp1551Val | |
| XM_011542963.1:c.4538A>T | XP_011541265.1:p.Asp1513Val | |
| XM_011542964.1:c.4652A>T | XP_011541266.1:p.Asp1551Val | |
| XM_011542965.1:c.3113A>T | XP_011541267.1:p.Asp1038Val | |
| XM_011542966.1:c.2012A>T | XP_011541268.1:p.Asp671Val | |
| XM_011542967.1:c.1484A>T | XP_011541269.1:p.Asp495Val | |
| XM_011542963.3:c.4538A>T | XP_011541265.1:p.Asp1513Val | |
| XM_011542965.3:c.3113A>T | XP_011541267.1:p.Asp1038Val | |
| XM_011542967.3:c.1484A>T | XP_011541269.1:p.Asp495Val | |
| XM_017018169.2:c.4340A>T | XP_016873658.1:p.Asp1447Val | |
| XM_017018170.2:c.4127A>T | XP_016873659.1:p.Asp1376Val | |
| XM_017018171.1:c.4652A>T | XP_016873660.1:p.Asp1551Val | |
| XM_017018172.2:c.2012A>T | XP_016873661.1:p.Asp671Val | |
| NM_003105.6:c.4652A>T MANE Select | NP_003096.2:p.Asp1551Val |