gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143316395A>G , CM000669.2:g.143316395A>G | GRCh38 |
| NC_000007.13:g.143013488A>G , CM000669.1:g.143013488A>G | GRCh37 |
| NC_000007.12:g.142723610A>G | NCBI36 |
| NG_009815.1:g.5270A>G | |
| NG_009815.2:g.5270A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.180+3A>G | ENSP00000498052.2:n.180+3A>G | |
| ENST00000343257.7:c.180+3A>G MANE Select | ENSP00000339867.2:n.180+3A>G | |
| ENST00000650516.1:c.180+3A>G | ENSP00000498052.1:n.180+3A>G | |
| ENST00000343257.6:c.180+3A>G | ENSP00000339867.2:n.180+3A>G | |
| NM_000083.2:c.180+3A>G | NP_000074.2:n.180+3A>G | |
| NR_046453.1:n.267+3A>G | ||
| XM_011515781.1:c.180+3A>G | XP_011514083.1:n.180+3A>G | |
| NM_000083.3:c.180+3A>G MANE Select | NP_000074.3:n.180+3A>G | |
| NR_046453.2:n.282+3A>G |