Linked Data
ClinVar Variation Id:
1490634
ClinVar RCV Id:
RCV002001808
dbSNP Id:
rs1263531170
gnomAD v2:
7-107408064-G-A
gnomAD v4:
7-107767619-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107767619G>A , CM000669.2:g.107767619G>A | GRCh38 |
| NC_000007.13:g.107408064G>A , CM000669.1:g.107408064G>A | GRCh37 |
| NC_000007.12:g.107195300G>A | NCBI36 |
| NG_008046.1:g.40615C>T , LRG_683:g.40615C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.2231C>T MANE Select | ENSP00000345873.5:p.Thr744Ile | |
| ENST00000340010.9:c.2231C>T | ENSP00000345873.5:p.Thr744Ile | |
| ENST00000379083.7:c.*1788C>T | ENSP00000368375.3:n.*1788C>T | |
| NM_000111.2:c.2231C>T , LRG_683t1:c.2231C>T | NP_000102.1:p.Thr744Ile | |
| XM_011515867.1:c.2231C>T | XP_011514169.1:p.Thr744Ile | |
| NM_000111.3:c.2231C>T MANE Select | NP_000102.1:p.Thr744Ile |