Linked Data
ClinVar Variation Id:
39379
ClinVar RCV Id:
RCV000734612
dbSNP Id:
rs28371706
ExAC:
22:42525772 G / A
gnomAD v2:
22-42525772-G-A
gnomAD v3:
22-42129770-G-A
gnomAD v4:
22-42129770-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42129770G>A , CM000684.2:g.42129770G>A | GRCh38 |
| NC_000022.10:g.42525772G>A , CM000684.1:g.42525772G>A | GRCh37 |
| NC_000022.9:g.40855716G>A | NCBI36 |
| NG_008376.3:g.5222C>T | |
| NG_008376.4:g.6041C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.320C>T | ENSP00000353241.6:p.Thr107Ile | |
| ENST00000645361.2:c.320C>T MANE Select | ENSP00000496150.1:p.Thr107Ile | |
| ENST00000359033.4:c.320C>T | ENSP00000351927.4:p.Thr107Ile | |
| ENST00000360124.9:c.140C>T | ENSP00000353241.5:p.Thr47Ile | |
| ENST00000360608.9:c.320C>T | ENSP00000353820.5:p.Thr107Ile | |
| ENST00000389970.7:c.254C>T | ENSP00000374620.4:p.Thr85Ile | |
| ENST00000488442.1:n.1044C>T | ||
| NM_000106.5:c.320C>T | NP_000097.3:p.Thr107Ile | |
| NM_001025161.2:c.320C>T | NP_001020332.2:p.Thr107Ile | |
| XM_011529966.1:c.320C>T | XP_011528268.1:p.Thr107Ile | |
| XM_011529967.1:c.320C>T | XP_011528269.1:p.Thr107Ile | |
| XM_011529968.1:c.320C>T | XP_011528270.1:p.Thr107Ile | |
| XM_011529969.1:c.177C>T | XP_011528271.1:p.His59= | |
| XM_011529970.1:c.320C>T | XP_011528272.1:p.Thr107Ile | |
| XM_011529971.1:c.177C>T | XP_011528273.1:p.His59= | |
| XM_011529972.1:c.320C>T | XP_011528274.1:p.Thr107Ile | |
| NM_000106.6:c.320C>T MANE Select | NP_000097.3:p.Thr107Ile | |
| NM_001025161.3:c.320C>T | NP_001020332.2:p.Thr107Ile |