Linked Data
dbSNP Id:
rs537084050
gnomAD v2:
11-8111563-G-T
gnomAD v3:
11-8090016-G-T
gnomAD v4:
11-8090016-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8090016G>T , CM000673.2:g.8090016G>T | GRCh38 |
| NC_000011.9:g.8111563G>T , CM000673.1:g.8111563G>T | GRCh37 |
| NC_000011.8:g.8068139G>T | NCBI36 |
| NG_029912.1:g.56384G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299506.3:c.91-53G>T MANE Select | ENSP00000299506.3:n.91-53G>T | |
| ENST00000299506.2:c.91-53G>T | ENSP00000299506.2:n.91-53G>T | |
| ENST00000305253.8:c.256-53G>T | ENSP00000305426.4:n.256-53G>T | |
| ENST00000534099.5:c.109-53G>T | ENSP00000434400.1:n.109-53G>T | |
| NM_003320.4:c.256-53G>T | NP_003311.2:n.256-53G>T | |
| NM_177972.2:c.91-53G>T | NP_813977.1:n.91-53G>T | |
| XM_005253109.2:c.217-53G>T | XP_005253166.1:n.217-53G>T | |
| XM_011520344.1:c.127-53G>T | XP_011518646.1:n.127-53G>T | |
| XM_005253109.3:c.217-53G>T | XP_005253166.1:n.217-53G>T | |
| XM_011520344.2:c.127-53G>T | XP_011518646.1:n.127-53G>T | |
| NM_177972.3:c.91-53G>T MANE Select | NP_813977.1:n.91-53G>T | |
| NM_003320.5:c.256-53G>T | NP_003311.2:n.256-53G>T |