Linked Data
ClinVar Variation Id:
531609
dbSNP Id:
rs148561632
ExAC:
16:50759443 G / A
gnomAD v2:
16-50759443-G-A
gnomAD v3:
16-50725532-G-A
gnomAD v4:
16-50725532-G-A
COSMIC:
COSM1324420
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50725532G>A , CM000678.2:g.50725532G>A | GRCh38 |
| NC_000016.9:g.50759443G>A , CM000678.1:g.50759443G>A | GRCh37 |
| NC_000016.8:g.49316944G>A | NCBI36 |
| NG_007508.1:g.33394G>A , LRG_177:g.33394G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.2382-4286G>A | ENSP00000493088.1:n.2382-4286G>A | |
| ENST00000646677.2:c.*610G>A | ENSP00000496533.1:n.*610G>A | |
| ENST00000697428.1:n.2323G>A | ||
| ENST00000641284.1:c.2382-4286G>A | ENSP00000493088.1:n.2382-4286G>A | |
| ENST00000646677.1:c.*610G>A | ENSP00000496533.1:n.*610G>A | |
| ENST00000647318.2:c.2845G>A MANE Select | ENSP00000495993.1:p.Ala949Thr | |
| ENST00000300589.6:c.2926G>A | ENSP00000300589.2:p.Ala976Thr | |
| NM_001293557.1:c.2845G>A | NP_001280486.1:p.Ala949Thr | |
| NM_022162.2:c.2926G>A | NP_071445.1:p.Ala976Thr | |
| XM_005256084.2:c.2845G>A | XP_005256141.1:p.Ala949Thr | |
| XM_006721242.2:c.2761G>A | XP_006721305.1:p.Ala921Thr | |
| XM_011523257.1:c.2422G>A | XP_011521559.1:p.Ala808Thr | |
| XM_011523258.1:c.2422G>A | XP_011521560.1:p.Ala808Thr | |
| XM_011523259.1:c.2260G>A | XP_011521561.1:p.Ala754Thr | |
| XM_005256084.4:c.2845G>A | XP_005256141.1:p.Ala949Thr | |
| XM_006721242.4:c.2761G>A | XP_006721305.1:p.Ala921Thr | |
| XM_011523259.2:c.2260G>A | XP_011521561.1:p.Ala754Thr | |
| XM_017023535.1:c.2353G>A | XP_016879024.1:p.Ala785Thr | |
| XM_017023536.1:c.2260G>A | XP_016879025.1:p.Ala754Thr | |
| XM_017023537.1:c.2260G>A | XP_016879026.1:p.Ala754Thr | |
| XM_017023538.1:c.2260G>A | XP_016879027.1:p.Ala754Thr | |
| NM_001293557.2:c.2845G>A | NP_001280486.1:p.Ala949Thr | |
| NM_001370466.1:c.2845G>A MANE Select | NP_001357395.1:p.Ala949Thr | |
| NM_022162.3:c.2926G>A | NP_071445.1:p.Ala976Thr | |
| NR_163434.1:n.3057G>A |