Linked Data
ClinVar Variation Id:
289407
dbSNP Id:
rs140608161
ExAC:
1:103461438 C / T
gnomAD v2:
1-103461438-C-T
gnomAD v3:
1-102995882-C-T
gnomAD v4:
1-102995882-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102995882C>T , CM000663.2:g.102995882C>T | GRCh38 |
| NC_000001.10:g.103461438C>T , CM000663.1:g.103461438C>T | GRCh37 |
| NC_000001.9:g.103234026C>T | NCBI36 |
| NG_008033.1:g.117615G>A | |
| NG_008033.2:g.117615G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.2322G>A MANE Select | ENSP00000359114.3:p.Lys774= | |
| ENST00000353414.8:c.2205G>A | ENSP00000302551.6:p.Lys735= | |
| ENST00000358392.6:c.2358G>A | ENSP00000351163.2:p.Lys786= | |
| ENST00000370096.7:c.2322G>A | ENSP00000359114.3:p.Lys774= | |
| ENST00000512756.5:c.1974G>A | ENSP00000426533.1:p.Lys658= | |
| ENST00000635193.1:c.1640G>A | ||
| NM_001190709.1:c.2205G>A | NP_001177638.1:p.Lys735= | |
| NM_001854.3:c.2322G>A | NP_001845.3:p.Lys774= | |
| NM_080629.2:c.2358G>A | NP_542196.2:p.Lys786= | |
| NM_080630.3:c.1974G>A | NP_542197.3:p.Lys658= | |
| XM_011540719.1:c.2322G>A | XP_011539021.1:p.Lys774= | |
| XM_011540720.1:c.555G>A | XP_011539022.1:p.Lys185= | |
| XM_011540721.1:c.-107G>A | XP_011539023.1:n.-107G>A | |
| XR_946545.1:n.2720G>A | ||
| NR_134980.1:n.2640G>A | ||
| XM_017000334.1:c.2475G>A | XP_016855823.1:p.Lys825= | |
| XM_017000335.1:c.2469G>A | XP_016855824.1:p.Lys823= | |
| XM_017000336.1:c.2475G>A | XP_016855825.1:p.Lys825= | |
| XM_017000337.1:c.873G>A | XP_016855826.1:p.Lys291= | |
| NM_001854.4:c.2322G>A MANE Select | NP_001845.3:p.Lys774= | |
| NM_080630.4:c.1974G>A | NP_542197.3:p.Lys658= | |
| NR_134980.2:n.2666G>A | ||
| NM_001190709.2:c.2205G>A | NP_001177638.1:p.Lys735= | |
| NM_080629.3:c.2358G>A | NP_542196.2:p.Lys786= |