gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13048154A>G , CM000682.2:g.13048154A>G | GRCh38 |
| NC_000020.10:g.13028802A>G , CM000682.1:g.13028802A>G | GRCh37 |
| NC_000020.9:g.12976802A>G | NCBI36 |
| NG_053155.1:g.44176A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399002.7:c.118-791A>G MANE Select | ENSP00000381968.2:n.118-791A>G | |
| ENST00000399002.6:c.118-791A>G | ENSP00000381968.2:n.118-791A>G | |
| ENST00000434210.5:c.118-791A>G | ENSP00000389749.1:n.118-791A>G | |
| ENST00000450297.1:c.37-791A>G | ENSP00000409125.1:n.37-791A>G | |
| ENST00000476791.1:n.407-791A>G | ||
| NM_018327.2:c.118-791A>G | NP_060797.2:n.118-791A>G | |
| XM_011529278.1:c.118-791A>G | XP_011527580.1:n.118-791A>G | |
| XM_011529279.1:c.118-791A>G | XP_011527581.1:n.118-791A>G | |
| NM_001349945.1:c.118-791A>G | NP_001336874.1:n.118-791A>G | |
| NM_018327.3:c.118-791A>G | NP_060797.2:n.118-791A>G | |
| XM_017027922.1:c.118-791A>G | XP_016883411.1:n.118-791A>G | |
| XR_001754317.1:n.175-791A>G | ||
| NM_018327.4:c.118-791A>G MANE Select | NP_060797.2:n.118-791A>G | |
| NM_001349945.2:c.118-791A>G | NP_001336874.1:n.118-791A>G |