gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47441716G>A , CM000673.2:g.47441716G>A | GRCh38 |
| NC_000011.9:g.47463268G>A , CM000673.1:g.47463268G>A | GRCh37 |
| NC_000011.8:g.47419844G>A | NCBI36 |
| NG_008312.1:g.12463C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.807C>T MANE Select | ENSP00000298854.2:p.Tyr269= | |
| ENST00000298854.6:c.807C>T | ENSP00000298854.2:p.Tyr269= | |
| ENST00000352508.7:c.789+107C>T | ENSP00000298853.3:n.789+107C>T | |
| ENST00000524487.5:c.648C>T | ENSP00000435551.2:p.Tyr216= | |
| ENST00000528356.1:n.16C>T | ||
| ENST00000529341.1:c.789+107C>T | ENSP00000431732.1:n.789+107C>T | |
| NM_005055.4:c.807C>T | NP_005046.2:p.Tyr269= | |
| NM_032645.4:c.789+107C>T | NP_116034.2:n.789+107C>T | |
| XM_005253042.2:c.807C>T | XP_005253099.1:p.Tyr269= | |
| XM_005253043.2:c.789+107C>T | XP_005253100.1:n.789+107C>T | |
| XM_011520252.1:c.807C>T | XP_011518554.1:p.Tyr269= | |
| XM_011520253.1:c.807C>T | XP_011518555.1:p.Tyr269= | |
| XM_005253042.3:c.807C>T | XP_005253099.1:p.Tyr269= | |
| XM_005253043.3:c.789+107C>T | XP_005253100.1:n.789+107C>T | |
| NM_005055.5:c.807C>T MANE Select | NP_005046.2:p.Tyr269= | |
| NM_032645.5:c.789+107C>T | NP_116034.2:n.789+107C>T |