gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000043 (NFE)
Exomes Max Group AF
0.00000382 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126622A>G , CM000684.2:g.42126622A>G | GRCh38 |
| NC_000022.10:g.42522624A>G , CM000684.1:g.42522624A>G | GRCh37 |
| NC_000022.9:g.40852568A>G | NCBI36 |
| NG_008376.3:g.8370T>C | |
| NG_008376.4:g.9189T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.1244T>C | ENSP00000353241.6:n.1244T>C | |
| ENST00000645361.2:c.1446T>C MANE Select | ENSP00000496150.1:p.Ala482= | |
| ENST00000359033.4:c.1293T>C | ENSP00000351927.4:p.Ala431= | |
| ENST00000360124.9:c.1064T>C | ENSP00000353241.5:n.1064T>C | |
| ENST00000360608.9:c.1446T>C | ENSP00000353820.5:p.Ala482= | |
| ENST00000389970.7:c.1437T>C | ENSP00000374620.4:p.Ala479= | |
| ENST00000488442.1:n.2170T>C | ||
| NM_000106.5:c.1446T>C | NP_000097.3:p.Ala482= | |
| NM_001025161.2:c.1293T>C | NP_001020332.2:p.Ala431= | |
| XM_011529966.1:c.1446T>C | XP_011528268.1:p.Ala482= | |
| XM_011529967.1:c.1446T>C | XP_011528269.1:p.Ala482= | |
| XM_011529968.1:c.1446T>C | XP_011528270.1:p.Ala482= | |
| XM_011529969.1:c.1302T>C | XP_011528271.1:p.Ala434= | |
| XM_011529970.1:c.1293T>C | XP_011528272.1:p.Ala431= | |
| XM_011529971.1:c.1302T>C | XP_011528273.1:p.Ala434= | |
| NM_000106.6:c.1446T>C MANE Select | NP_000097.3:p.Ala482= | |
| NM_001025161.3:c.1293T>C | NP_001020332.2:p.Ala431= |