gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.152297246T>A , CM000685.2:g.152297246T>A | GRCh38 |
| NC_000023.10:g.151465718T>A , CM000685.1:g.151465718T>A | GRCh37 |
| NC_000023.9:g.151216374T>A | NCBI36 |
| NG_007102.1:g.159113A>T | |
| NG_007102.2:g.159113A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370314.9:c.263-12511A>T MANE Select | ENSP00000359337.4:n.263-12511A>T | |
| ENST00000370314.8:c.263-12511A>T | ENSP00000359337.4:n.263-12511A>T | |
| ENST00000535043.1:c.263-12511A>T | ENSP00000443527.1:n.263-12511A>T | |
| NM_000808.3:c.263-12511A>T | NP_000799.1:n.263-12511A>T | |
| XM_005274659.1:c.263-12511A>T | XP_005274716.1:n.263-12511A>T | |
| XM_006724811.1:c.263-12511A>T | XP_006724874.1:n.263-12511A>T | |
| XM_011531133.1:c.263-12511A>T | XP_011529435.1:n.263-12511A>T | |
| XM_011531134.1:c.263-12511A>T | XP_011529436.1:n.263-12511A>T | |
| XM_006724811.3:c.263-12511A>T | XP_006724874.1:n.263-12511A>T | |
| NM_000808.4:c.263-12511A>T MANE Select | NP_000799.1:n.263-12511A>T |