gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24178028T>C , CM000668.2:g.24178028T>C | GRCh38 |
| NC_000006.11:g.24178256T>C , CM000668.1:g.24178256T>C | GRCh37 |
| NC_000006.10:g.24286235T>C | NCBI36 |
| NG_012829.1:g.185025A>G | |
| NG_012829.2:g.210265A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.1326+302A>G MANE Select | ENSP00000367715.3:n.1326+302A>G | |
| ENST00000378450.6:c.585+302A>G | ENSP00000367711.3:n.585+302A>G | |
| ENST00000378454.7:c.1326+302A>G | ENSP00000367715.3:n.1326+302A>G | |
| NM_001195610.1:c.1326+302A>G | NP_001182539.1:n.1326+302A>G | |
| NM_016356.4:c.1326+302A>G | NP_057440.2:n.1326+302A>G | |
| NM_016356.5:c.1326+302A>G MANE Select | NP_057440.2:n.1326+302A>G | |
| NM_001195610.2:c.1326+302A>G | NP_001182539.1:n.1326+302A>G |