gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.96290263G>A , CM000673.2:g.96290263G>A | GRCh38 |
| NC_000011.9:g.96023427G>A , CM000673.1:g.96023427G>A | GRCh37 |
| NC_000011.8:g.95663075G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524717.6:c.513+51120C>T MANE Select | ENSP00000434552.1:n.513+51120C>T | |
| ENST00000524717.5:c.513+51120C>T | ENSP00000434552.1:n.513+51120C>T | |
| NM_032427.3:c.513+51120C>T | NP_115803.1:n.513+51120C>T | |
| XM_011543024.1:c.-172+52645C>T | XP_011541326.1:n.-172+52645C>T | |
| XM_011543025.1:c.513+51120C>T | XP_011541327.1:n.513+51120C>T | |
| XM_011543024.3:c.-172+52645C>T | XP_011541326.1:n.-172+52645C>T | |
| XM_011543025.2:c.513+51120C>T | XP_011541327.1:n.513+51120C>T | |
| NM_032427.4:c.513+51120C>T MANE Select | NP_115803.1:n.513+51120C>T |