gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000958 (NFE)
Genomes Max Group AF
0.00000491 (NFE)
Exomes Max Group AF
0.00000856 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126598A>C , CM000684.2:g.42126598A>C | GRCh38 |
| NC_000022.10:g.42522600A>C , CM000684.1:g.42522600A>C | GRCh37 |
| NC_000022.9:g.40852544A>C | NCBI36 |
| NG_008376.3:g.8394T>G | |
| NG_008376.4:g.9213T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.1268T>G | ENSP00000353241.6:n.1268T>G | |
| ENST00000645361.2:c.1470T>G MANE Select | ENSP00000496150.1:p.Tyr490Ter | |
| ENST00000359033.4:c.1317T>G | ENSP00000351927.4:p.Tyr439Ter | |
| ENST00000360124.9:c.1088T>G | ENSP00000353241.5:n.1088T>G | |
| ENST00000360608.9:c.1470T>G | ENSP00000353820.5:p.Tyr490Ter | |
| ENST00000389970.7:c.1461T>G | ENSP00000374620.4:p.Tyr487Ter | |
| ENST00000488442.1:n.2194T>G | ||
| NM_000106.5:c.1470T>G | NP_000097.3:p.Tyr490Ter | |
| NM_001025161.2:c.1317T>G | NP_001020332.2:p.Tyr439Ter | |
| XM_011529966.1:c.1452+18T>G | XP_011528268.1:n.1452+18T>G | |
| XM_011529967.1:c.1452+18T>G | XP_011528269.1:n.1452+18T>G | |
| XM_011529968.1:c.1452+18T>G | XP_011528270.1:n.1452+18T>G | |
| XM_011529969.1:c.1308+18T>G | XP_011528271.1:n.1308+18T>G | |
| XM_011529970.1:c.1299+18T>G | XP_011528272.1:n.1299+18T>G | |
| XM_011529971.1:c.1326T>G | XP_011528273.1:p.Tyr442Ter | |
| NM_000106.6:c.1470T>G MANE Select | NP_000097.3:p.Tyr490Ter | |
| NM_001025161.3:c.1317T>G | NP_001020332.2:p.Tyr439Ter |