Linked Data
ClinVar Variation Id:
359124
dbSNP Id:
rs201861334
ExAC:
7:143047697 G / A
gnomAD v2:
7-143047697-G-A
gnomAD v3:
7-143350604-G-A
gnomAD v4:
7-143350604-G-A
COSMIC:
COSM3258103
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143350604G>A , CM000669.2:g.143350604G>A | GRCh38 |
| NC_000007.13:g.143047697G>A , CM000669.1:g.143047697G>A | GRCh37 |
| NC_000007.12:g.142757819G>A | NCBI36 |
| NG_009815.1:g.39479G>A | |
| NG_009815.2:g.39479G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2545G>A | ENSP00000498052.2:p.Ala849Thr | |
| ENST00000343257.7:c.2545G>A MANE Select | ENSP00000339867.2:p.Ala849Thr | |
| ENST00000432192.6:c.2369G>A | ||
| ENST00000343257.6:c.2545G>A | ENSP00000339867.2:p.Ala849Thr | |
| NM_000083.2:c.2545G>A | NP_000074.2:p.Ala849Thr | |
| NR_046453.1:n.2485G>A | ||
| XM_011515781.1:c.2569G>A | XP_011514083.1:p.Ala857Thr | |
| XM_011515782.1:c.1291G>A | XP_011514084.1:p.Ala431Thr | |
| XM_011515782.2:c.1291G>A | XP_011514084.1:p.Ala431Thr | |
| XM_017011739.1:c.2119G>A | XP_016867228.1:p.Ala707Thr | |
| XM_017011740.1:c.2095G>A | XP_016867229.1:p.Ala699Thr | |
| NM_000083.3:c.2545G>A MANE Select | NP_000074.3:p.Ala849Thr | |
| NR_046453.2:n.2500G>A |