gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002155 (NFE)
Exomes Max Group AF
0.00002202 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129492308C>G , CM000668.2:g.129492308C>G | GRCh38 |
| NC_000006.11:g.129813453C>G , CM000668.1:g.129813453C>G | GRCh37 |
| NC_000006.10:g.129855146C>G | NCBI36 |
| NG_008678.1:g.614168C>G , LRG_409:g.614168C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494137.2:c.141-7C>G | ENSP00000510626.1:n.141-7C>G | |
| ENST00000498257.6:c.141-7C>G | ENSP00000510533.1:n.141-7C>G | |
| ENST00000617695.5:c.8064-7C>G | ENSP00000481744.2:n.8064-7C>G | |
| ENST00000618192.5:c.8340-7C>G | ENSP00000480802.2:n.8340-7C>G | |
| ENST00000688198.1:n.1054-7C>G | ||
| ENST00000688799.1:c.141-7C>G | ENSP00000508458.1:n.141-7C>G | |
| ENST00000690858.1:n.1070-7C>G | ||
| ENST00000421865.3:c.8076-7C>G MANE Select | ENSP00000400365.2:n.8076-7C>G | |
| ENST00000421865.2:c.8076-7C>G | ENSP00000400365.2:n.8076-7C>G | |
| ENST00000494137.1:n.238-7C>G | ||
| ENST00000498257.5:n.389-7C>G | ||
| ENST00000617695.4:c.8064-7C>G | ENSP00000481744.1:n.8064-7C>G | |
| ENST00000618192.4:c.8073-7C>G | ENSP00000480802.1:n.8073-7C>G | |
| NM_000426.3:c.8076-7C>G , LRG_409t1:c.8076-7C>G | NP_000417.2:n.8076-7C>G | |
| NM_001079823.1:c.8064-7C>G | NP_001073291.1:n.8064-7C>G | |
| XM_005266981.2:c.8340-7C>G | XP_005267038.1:n.8340-7C>G | |
| XM_005266982.2:c.8328-7C>G | XP_005267039.1:n.8328-7C>G | |
| XM_011535820.1:c.8334-7C>G | XP_011534122.1:n.8334-7C>G | |
| XM_005266981.3:c.8340-7C>G | XP_005267038.1:n.8340-7C>G | |
| XM_005266982.3:c.8328-7C>G | XP_005267039.1:n.8328-7C>G | |
| XM_011535820.2:c.8334-7C>G | XP_011534122.1:n.8334-7C>G | |
| XM_017010851.2:c.8346-7C>G | XP_016866340.1:n.8346-7C>G | |
| XM_017010852.1:c.6471-7C>G | XP_016866341.1:n.6471-7C>G | |
| NM_000426.4:c.8076-7C>G MANE Select | NP_000417.3:n.8076-7C>G | |
| NM_001079823.2:c.8064-7C>G | NP_001073291.2:n.8064-7C>G |