Linked Data
ClinVar Variation Id:
359100
dbSNP Id:
rs140726900
ExAC:
7:143018475 G / A
gnomAD v2:
7-143018475-G-A
gnomAD v3:
7-143321382-G-A
gnomAD v4:
7-143321382-G-A
COSMIC:
COSM1086738
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321382G>A , CM000669.2:g.143321382G>A | GRCh38 |
| NC_000007.13:g.143018475G>A , CM000669.1:g.143018475G>A | GRCh37 |
| NC_000007.12:g.142728597G>A | NCBI36 |
| NG_009815.1:g.10257G>A | |
| NG_009815.2:g.10257G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.451G>A | ENSP00000498052.2:p.Ala151Thr | |
| ENST00000343257.7:c.451G>A MANE Select | ENSP00000339867.2:p.Ala151Thr | |
| ENST00000432192.6:c.219G>A | ||
| ENST00000650516.1:c.451G>A | ENSP00000498052.1:p.Ala151Thr | |
| ENST00000343257.6:c.451G>A | ENSP00000339867.2:p.Ala151Thr | |
| NM_000083.2:c.451G>A | NP_000074.2:p.Ala151Thr | |
| NR_046453.1:n.538G>A | ||
| XM_011515781.1:c.451G>A | XP_011514083.1:p.Ala151Thr | |
| XM_017011739.1:c.158G>A | XP_016867228.1:p.Arg53His | |
| XM_017011740.1:c.158G>A | XP_016867229.1:p.Arg53His | |
| NM_000083.3:c.451G>A MANE Select | NP_000074.3:p.Ala151Thr | |
| NR_046453.2:n.553G>A |