MyVariant.info:
GRCh37
chr22:g.42522620G>A
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000879 (SAS)
Exomes Max Group AF
0.00000387 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126618G>A , CM000684.2:g.42126618G>A | GRCh38 |
| NC_000022.10:g.42522620G>A , CM000684.1:g.42522620G>A | GRCh37 |
| NC_000022.9:g.40852564G>A | NCBI36 |
| NG_008376.3:g.8374C>T | |
| NG_008376.4:g.9193C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.1248C>T | ENSP00000353241.6:n.1248C>T | |
| ENST00000645361.2:c.1450C>T MANE Select | ENSP00000496150.1:p.Leu484= | |
| ENST00000359033.4:c.1297C>T | ENSP00000351927.4:p.Leu433= | |
| ENST00000360124.9:c.1068C>T | ENSP00000353241.5:n.1068C>T | |
| ENST00000360608.9:c.1450C>T | ENSP00000353820.5:p.Leu484= | |
| ENST00000389970.7:c.1441C>T | ENSP00000374620.4:p.Leu481= | |
| ENST00000488442.1:n.2174C>T | ||
| NM_000106.5:c.1450C>T | NP_000097.3:p.Leu484= | |
| NM_001025161.2:c.1297C>T | NP_001020332.2:p.Leu433= | |
| XM_011529966.1:c.1450C>T | XP_011528268.1:p.Leu484= | |
| XM_011529967.1:c.1450C>T | XP_011528269.1:p.Leu484= | |
| XM_011529968.1:c.1450C>T | XP_011528270.1:p.Leu484= | |
| XM_011529969.1:c.1306C>T | XP_011528271.1:p.Leu436= | |
| XM_011529970.1:c.1297C>T | XP_011528272.1:p.Leu433= | |
| XM_011529971.1:c.1306C>T | XP_011528273.1:p.Leu436= | |
| NM_000106.6:c.1450C>T MANE Select | NP_000097.3:p.Leu484= | |
| NM_001025161.3:c.1297C>T | NP_001020332.2:p.Leu433= |