Linked Data
dbSNP Id:
rs16935110
gnomAD v2:
8-69730719-A-T
gnomAD v3:
8-68818484-A-T
gnomAD v4:
8-68818484-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.68818484A>T , CM000670.2:g.68818484A>T | GRCh38 |
| NC_000008.10:g.69730719A>T , CM000670.1:g.69730719A>T | GRCh37 |
| NC_000008.9:g.69893273A>T | NCBI36 |
| NG_055258.1:g.492763A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000518698.6:c.*238A>T MANE Select | ENSP00000427820.1:n.*238A>T | |
| ENST00000337103.8:c.*238A>T | ENSP00000337174.4:n.*238A>T | |
| ENST00000518698.5:c.*238A>T | ENSP00000427820.1:n.*238A>T | |
| NM_052958.2:c.*238A>T | NP_443190.2:n.*238A>T | |
| XM_011517445.1:c.*238A>T | XP_011515747.1:n.*238A>T | |
| XM_011517446.1:c.*238A>T | XP_011515748.1:n.*238A>T | |
| XM_011517447.1:c.*238A>T | XP_011515749.1:n.*238A>T | |
| XM_011517448.1:c.*238A>T | XP_011515750.1:n.*238A>T | |
| NM_001349476.1:c.*238A>T | NP_001336405.1:n.*238A>T | |
| NM_001349477.1:c.*238A>T | NP_001336406.1:n.*238A>T | |
| NM_001349478.1:c.*238A>T | NP_001336407.1:n.*238A>T | |
| NM_001349479.1:c.*238A>T | NP_001336408.1:n.*238A>T | |
| NM_052958.3:c.*238A>T | NP_443190.2:n.*238A>T | |
| NR_146186.1:n.2359A>T | ||
| NR_146187.1:n.2453A>T | ||
| NM_052958.4:c.*238A>T MANE Select | NP_443190.2:n.*238A>T |