gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.70856216A>T , CM000674.2:g.70856216A>T | GRCh38 |
| NC_000012.11:g.71249996A>T , CM000674.1:g.71249996A>T | GRCh37 |
| NC_000012.10:g.69536263A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283228.7:c.357+36463T>A MANE Select | ENSP00000283228.2:n.357+36463T>A | |
| ENST00000283228.6:c.357+36463T>A | ENSP00000283228.2:n.357+36463T>A | |
| NM_002849.3:c.357+36463T>A | NP_002840.2:n.357+36463T>A | |
| XM_011538615.1:c.333+36463T>A | XP_011536917.1:n.333+36463T>A | |
| XM_011538616.1:c.357+36463T>A | XP_011536918.1:n.357+36463T>A | |
| XR_944652.1:n.745+36463T>A | ||
| XM_011538615.2:c.333+36463T>A | XP_011536917.1:n.333+36463T>A | |
| XR_001748830.1:n.699+36463T>A | ||
| NM_002849.4:c.357+36463T>A MANE Select | NP_002840.2:n.357+36463T>A |