Linked Data
ClinVar Variation Id:
102887
dbSNP Id:
rs199475609
gnomAD v4:
12-102851700-G-A
ERepo:
CA229839/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102851700G>A , CM000674.2:g.102851700G>A | GRCh38 |
| NC_000012.11:g.103245478G>A , CM000674.1:g.103245478G>A | GRCh37 |
| NC_000012.10:g.101769608G>A | NCBI36 |
| NG_008690.1:g.70903C>T | |
| NG_008690.2:g.111711C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.899C>T MANE Select | ENSP00000448059.1:p.Ala300Val | |
| ENST00000307000.7:c.884C>T | ENSP00000303500.2:p.Ala295Val | |
| ENST00000549247.6:n.658C>T | ||
| ENST00000551114.2:n.561C>T | ||
| ENST00000553106.5:c.899C>T | ENSP00000448059.1:p.Ala300Val | |
| ENST00000635477.1:c.60C>T | ||
| NM_000277.1:c.899C>T | NP_000268.1:p.Ala300Val | |
| XM_011538422.1:c.899C>T | XP_011536724.1:p.Ala300Val | |
| NM_000277.2:c.899C>T | NP_000268.1:p.Ala300Val | |
| NM_001354304.1:c.899C>T | NP_001341233.1:p.Ala300Val | |
| NM_000277.3:c.899C>T MANE Select | NP_000268.1:p.Ala300Val | |
| NM_001354304.2:c.899C>T | NP_001341233.1:p.Ala300Val |