Linked Data
ClinVar Variation Id:
366238
ClinVar RCV Id:
RCV001709640
dbSNP Id:
rs7023954
ExAC:
9:21816758 G / A
gnomAD v2:
9-21816758-G-A
gnomAD v3:
9-21816759-G-A
gnomAD v4:
9-21816759-G-A
COSMIC:
COSM3763862
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21816759G>A , CM000671.2:g.21816759G>A | GRCh38 |
| NC_000009.11:g.21816758G>A , CM000671.1:g.21816758G>A | GRCh37 |
| NC_000009.10:g.21806758G>A | NCBI36 |
| NG_032650.1:g.19124G>A | |
| NG_032650.2:g.19124G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000404796.3:c.166G>A | ENSP00000385916.2:p.Val56Ile | |
| ENST00000644715.2:c.166G>A MANE Select | ENSP00000494373.1:p.Val56Ile | |
| ENST00000380172.8:c.166G>A | ENSP00000369519.4:p.Val56Ile | |
| ENST00000404796.2:c.166G>A | ENSP00000385916.2:p.Val56Ile | |
| ENST00000419385.5:c.*38G>A | ENSP00000393507.1:n.*38G>A | |
| ENST00000427788.2:n.552G>A | ||
| ENST00000460874.6:c.217G>A | ENSP00000461932.1:p.Val73Ile | |
| ENST00000579422.5:n.554G>A | ||
| ENST00000580718.1:c.166G>A | ENSP00000464616.1:p.Val56Ile | |
| ENST00000580900.5:c.166G>A | ENSP00000463424.1:p.Val56Ile | |
| NM_002451.3:c.166G>A | NP_002442.2:p.Val56Ile | |
| NM_002451.4:c.166G>A MANE Select | NP_002442.2:p.Val56Ile | |
| NM_001396040.1:c.217G>A | NP_001382969.1:p.Val73Ile | |
| NM_001396041.1:c.166G>A | NP_001382970.1:p.Val56Ile | |
| NM_001396042.1:c.166G>A | NP_001382971.1:p.Val56Ile | |
| NM_001396043.1:c.166G>A | NP_001382972.1:p.Val56Ile | |
| NM_001396044.1:c.166G>A | NP_001382973.1:p.Val56Ile | |
| NM_001396045.1:c.166G>A | NP_001382974.1:p.Val56Ile | |
| NR_173242.1:n.279G>A |