Linked Data
dbSNP Id:
rs1931197404
gnomAD v3:
22-42127887-G-A
gnomAD v4:
22-42127887-G-A
MyVariant Identifiers:
chr22:g.42523889G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42127887G>A , CM000684.2:g.42127887G>A | GRCh38 |
| NC_000022.10:g.42523889G>A , CM000684.1:g.42523889G>A | GRCh37 |
| NC_000022.9:g.40853833G>A | NCBI36 |
| NG_008376.3:g.7105C>T | |
| NG_008376.4:g.7924C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.738C>T | ENSP00000353241.6:n.738C>T | |
| ENST00000645361.2:c.940C>T MANE Select | ENSP00000496150.1:p.Leu314= | |
| ENST00000359033.4:c.787C>T | ENSP00000351927.4:p.Leu263= | |
| ENST00000360124.9:c.558C>T | ENSP00000353241.5:n.558C>T | |
| ENST00000360608.9:c.940C>T | ENSP00000353820.5:p.Leu314= | |
| ENST00000389970.7:c.874C>T | ENSP00000374620.4:p.Leu292= | |
| ENST00000488442.1:n.1664C>T | ||
| NM_000106.5:c.940C>T | NP_000097.3:p.Leu314= | |
| NM_001025161.2:c.787C>T | NP_001020332.2:p.Leu263= | |
| XM_011529966.1:c.940C>T | XP_011528268.1:p.Leu314= | |
| XM_011529967.1:c.940C>T | XP_011528269.1:p.Leu314= | |
| XM_011529968.1:c.940C>T | XP_011528270.1:p.Leu314= | |
| XM_011529969.1:c.796C>T | XP_011528271.1:p.Leu266= | |
| XM_011529970.1:c.787C>T | XP_011528272.1:p.Leu263= | |
| XM_011529971.1:c.796C>T | XP_011528273.1:p.Leu266= | |
| XM_011529972.1:c.844-253C>T | XP_011528274.1:n.844-253C>T | |
| NM_000106.6:c.940C>T MANE Select | NP_000097.3:p.Leu314= | |
| NM_001025161.3:c.787C>T | NP_001020332.2:p.Leu263= |