Linked Data
ClinVar Variation Id:
1305436
ClinVar RCV Id:
RCV001768643
dbSNP Id:
rs762975677
ExAC:
2:223086045 G / A
gnomAD v2:
2-223086045-G-A
gnomAD v4:
2-222221326-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.222221326G>A , CM000664.2:g.222221326G>A | GRCh38 |
| NC_000002.11:g.223086045G>A , CM000664.1:g.223086045G>A | GRCh37 |
| NC_000002.10:g.222794289G>A | NCBI36 |
| NG_011632.1:g.82656C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336840.11:c.854C>T | ENSP00000338767.5:p.Ala285Val | |
| ENST00000344493.9:c.854C>T | ENSP00000342092.4:p.Ala285Val | |
| ENST00000350526.9:c.854C>T | ENSP00000343052.4:p.Ala285Val | |
| ENST00000392070.7:c.854C>T MANE Select | ENSP00000375922.3:p.Ala285Val | |
| ENST00000464706.6:n.292C>T | ||
| ENST00000644699.1:n.180C>T | ||
| ENST00000644937.1:n.126C>T | ||
| ENST00000646154.1:n.668C>T | ||
| ENST00000336840.10:c.854C>T | ENSP00000338767.5:p.Ala285Val | |
| ENST00000344493.8:c.854C>T | ENSP00000342092.4:p.Ala285Val | |
| ENST00000350526.8:c.854C>T | ENSP00000343052.4:p.Ala285Val | |
| ENST00000392069.6:c.854C>T | ENSP00000375921.2:p.Ala285Val | |
| ENST00000392070.6:c.854C>T | ENSP00000375922.2:p.Ala285Val | |
| ENST00000409551.7:c.851C>T | ENSP00000386750.3:p.Ala284Val | |
| ENST00000464706.5:n.278C>T | ||
| ENST00000555548.1:n.85C>T | ||
| NM_001127366.2:c.851C>T | NP_001120838.1:p.Ala284Val | |
| NM_181457.3:c.854C>T | NP_852122.1:p.Ala285Val | |
| NM_181458.3:c.854C>T | NP_852123.1:p.Ala285Val | |
| NM_181459.3:c.854C>T | NP_852124.1:p.Ala285Val | |
| NM_181460.3:c.854C>T | NP_852125.1:p.Ala285Val | |
| NM_181461.3:c.854C>T | NP_852126.1:p.Ala285Val | |
| XM_011511278.1:c.998C>T | XP_011509580.1:p.Ala333Val | |
| XM_011511279.1:c.290C>T | XP_011509581.1:p.Ala97Val | |
| NM_001127366.3:c.851C>T | NP_001120838.1:p.Ala284Val | |
| NM_181457.4:c.854C>T | NP_852122.1:p.Ala285Val | |
| NM_181458.4:c.854C>T MANE Select | NP_852123.1:p.Ala285Val | |
| NM_181459.4:c.854C>T | NP_852124.1:p.Ala285Val | |
| NM_181460.4:c.854C>T | NP_852125.1:p.Ala285Val | |
| NM_181461.4:c.854C>T | NP_852126.1:p.Ala285Val |