gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.137011132A>T , CM000664.2:g.137011132A>T | GRCh38 |
| NC_000002.11:g.137768702A>T , CM000664.1:g.137768702A>T | GRCh37 |
| NC_000002.10:g.137485172A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409968.6:c.140-45288A>T MANE Select | ENSP00000387145.1:n.140-45288A>T | |
| ENST00000272643.7:c.140-45288A>T | ENSP00000272643.4:n.140-45288A>T | |
| ENST00000409968.5:c.140-45288A>T | ENSP00000387145.1:n.140-45288A>T | |
| ENST00000413152.3:c.46+20195A>T | ENSP00000413841.3:n.46+20195A>T | |
| ENST00000472720.5:c.*106-45288A>T | ENSP00000473349.1:n.*106-45288A>T | |
| NM_001080427.1:c.46+20195A>T | NP_001073896.1:n.46+20195A>T | |
| NM_001316349.1:c.140-45288A>T | NP_001303278.1:n.140-45288A>T | |
| NM_001316349.2:c.140-45288A>T MANE Select | NP_001303278.1:n.140-45288A>T |