gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65791795A>T , CM000673.2:g.65791795A>T | GRCh38 |
| NC_000011.9:g.65559266A>T , CM000673.1:g.65559266A>T | GRCh37 |
| NC_000011.8:g.65315842A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335987.8:c.101-2236A>T MANE Select | ENSP00000337862.3:n.101-2236A>T | |
| ENST00000335987.7:c.101-2236A>T | ENSP00000337862.3:n.101-2236A>T | |
| ENST00000531907.1:n.361-523A>T | ||
| NM_004561.3:c.101-2236A>T | NP_004552.2:n.101-2236A>T | |
| XM_005274018.3:c.-87+2102A>T | XP_005274075.1:n.-87+2102A>T | |
| XM_011545067.1:c.-86-2236A>T | XP_011543369.1:n.-86-2236A>T | |
| XM_011545068.1:c.-87+932A>T | XP_011543370.1:n.-87+932A>T | |
| XM_011545067.2:c.-86-2236A>T | XP_011543369.1:n.-86-2236A>T | |
| XM_011545068.3:c.-87+932A>T | XP_011543370.1:n.-87+932A>T | |
| XM_017017837.1:c.-86-2236A>T | XP_016873326.1:n.-86-2236A>T | |
| NM_004561.4:c.101-2236A>T MANE Select | NP_004552.2:n.101-2236A>T |