Linked Data
ClinVar Variation Id:
2003414
ClinVar RCV Id:
RCV002811161
dbSNP Id:
rs944662090
gnomAD v2:
4-119652639-T-A
gnomAD v3:
4-118731484-T-A
gnomAD v4:
4-118731484-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.118731484T>A , CM000666.2:g.118731484T>A | GRCh38 |
| NC_000004.11:g.119652639T>A , CM000666.1:g.119652639T>A | GRCh37 |
| NC_000004.10:g.119872087T>A | NCBI36 |
| NG_042032.1:g.109688A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280551.11:c.2700A>T MANE Select | ENSP00000280551.6:p.Thr900= | |
| ENST00000280551.10:c.2700A>T | ENSP00000280551.6:p.Thr900= | |
| ENST00000505134.5:n.2831A>T | ||
| ENST00000511481.5:c.1593A>T | ENSP00000425491.1:p.Thr531= | |
| ENST00000511715.1:n.607A>T | ||
| NM_014822.2:c.2700A>T | NP_055637.2:p.Thr900= | |
| XM_005263378.1:c.2703A>T | XP_005263435.1:p.Thr901= | |
| XM_005263379.1:c.2703A>T | XP_005263436.1:p.Thr901= | |
| XM_011532435.1:c.2703A>T | XP_011530737.1:p.Thr901= | |
| XM_011532437.1:c.1368A>T | XP_011530739.1:p.Thr456= | |
| NM_001318066.1:c.2703A>T | NP_001304995.1:p.Thr901= | |
| NM_014822.3:c.2700A>T | NP_055637.2:p.Thr900= | |
| XM_005263379.3:c.2703A>T | XP_005263436.1:p.Thr901= | |
| XM_017008875.1:c.1368A>T | XP_016864364.1:p.Thr456= | |
| XM_024454293.1:c.2700A>T | XP_024310061.1:p.Thr900= | |
| NM_014822.4:c.2700A>T MANE Select | NP_055637.2:p.Thr900= | |
| NM_001318066.2:c.2703A>T | NP_001304995.1:p.Thr901= |