Linked Data
dbSNP Id:
rs61736507
ExAC:
22:42525180 G / T
gnomAD v2:
22-42525180-G-T
gnomAD v4:
22-42129178-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42129178G>T , CM000684.2:g.42129178G>T | GRCh38 |
| NC_000022.10:g.42525180G>T , CM000684.1:g.42525180G>T | GRCh37 |
| NC_000022.9:g.40855124G>T | NCBI36 |
| NG_008376.3:g.5814C>A | |
| NG_008376.4:g.6633C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.353-234C>A | ENSP00000353241.6:n.353-234C>A | |
| ENST00000645361.2:c.360C>A MANE Select | ENSP00000496150.1:p.Phe120Leu | |
| ENST00000359033.4:c.353-234C>A | ENSP00000351927.4:n.353-234C>A | |
| ENST00000360124.9:c.173-234C>A | ENSP00000353241.5:n.173-234C>A | |
| ENST00000360608.9:c.360C>A | ENSP00000353820.5:p.Phe120Leu | |
| ENST00000389970.7:c.294C>A | ENSP00000374620.4:p.Phe98Leu | |
| ENST00000488442.1:n.1084C>A | ||
| NM_000106.5:c.360C>A | NP_000097.3:p.Phe120Leu | |
| NM_001025161.2:c.353-234C>A | NP_001020332.2:n.353-234C>A | |
| XM_011529966.1:c.360C>A | XP_011528268.1:p.Phe120Leu | |
| XM_011529967.1:c.360C>A | XP_011528269.1:p.Phe120Leu | |
| XM_011529968.1:c.360C>A | XP_011528270.1:p.Phe120Leu | |
| XM_011529969.1:c.217C>A | XP_011528271.1:p.Pro73Thr | |
| XM_011529970.1:c.353-234C>A | XP_011528272.1:n.353-234C>A | |
| XM_011529971.1:c.217C>A | XP_011528273.1:p.Pro73Thr | |
| XM_011529972.1:c.360C>A | XP_011528274.1:p.Phe120Leu | |
| NM_000106.6:c.360C>A MANE Select | NP_000097.3:p.Phe120Leu | |
| NM_001025161.3:c.353-234C>A | NP_001020332.2:n.353-234C>A |