Linked Data
ClinVar Variation Id:
630
dbSNP Id:
rs118203925
gnomAD v2:
12-103306597-G-A
gnomAD v3:
12-102912819-G-A
gnomAD v4:
12-102912819-G-A
ERepo:
CA114370/MONDO:0009861/006
PubMed:
PMID:8088845
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102912819G>A , CM000674.2:g.102912819G>A | GRCh38 |
| NC_000012.11:g.103306597G>A , CM000674.1:g.103306597G>A | GRCh37 |
| NC_000012.10:g.101830727G>A | NCBI36 |
| NG_008690.1:g.9784C>T | |
| NG_008690.2:g.50592C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.140C>T MANE Select | ENSP00000448059.1:p.Ala47Val | |
| ENST00000307000.7:c.125C>T | ENSP00000303500.2:p.Ala42Val | |
| ENST00000546844.1:c.140C>T | ENSP00000446658.1:p.Ala47Val | |
| ENST00000548677.2:n.227C>T | ||
| ENST00000548928.1:n.62C>T | ||
| ENST00000549111.5:n.236C>T | ||
| ENST00000550978.6:c.124C>T | ||
| ENST00000551337.5:c.140C>T | ENSP00000447620.1:p.Ala47Val | |
| ENST00000551988.5:n.229C>T | ||
| ENST00000553106.5:c.140C>T | ENSP00000448059.1:p.Ala47Val | |
| ENST00000635500.1:n.108C>T | ||
| NM_000277.1:c.140C>T | NP_000268.1:p.Ala47Val | |
| XM_011538422.1:c.140C>T | XP_011536724.1:p.Ala47Val | |
| NM_000277.2:c.140C>T | NP_000268.1:p.Ala47Val | |
| NM_001354304.1:c.140C>T | NP_001341233.1:p.Ala47Val | |
| XM_017019370.2:c.140C>T | XP_016874859.1:p.Ala47Val | |
| NM_000277.3:c.140C>T MANE Select | NP_000268.1:p.Ala47Val | |
| NM_001354304.2:c.140C>T | NP_001341233.1:p.Ala47Val |