Linked Data
ClinVar Variation Id:
211088
dbSNP Id:
rs797045599
gnomAD v4:
16-56336817-C-T
PubMed:
PMID:27479843
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56336817C>T , CM000678.2:g.56336817C>T | GRCh38 |
| NC_000016.9:g.56370729C>T , CM000678.1:g.56370729C>T | GRCh37 |
| NC_000016.8:g.54928230C>T | NCBI36 |
| NG_042800.1:g.150479C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262494.13:c.680C>T | ENSP00000262494.7:p.Ala227Val | |
| ENST00000262493.12:c.680C>T MANE Select | ENSP00000262493.6:p.Ala227Val | |
| ENST00000262494.12:c.680C>T | ENSP00000262494.7:p.Ala227Val | |
| ENST00000562316.6:c.347C>T | ENSP00000457238.2:p.Ala116Val | |
| ENST00000568375.2:c.72C>T | ||
| ENST00000638185.1:n.895C>T | ||
| ENST00000638210.1:n.980C>T | ||
| ENST00000638705.1:c.680C>T | ENSP00000491223.1:p.Ala227Val | |
| ENST00000638836.1:n.590C>T | ||
| ENST00000639055.1:n.1401C>T | ||
| ENST00000639251.1:n.581C>T | ||
| ENST00000639268.1:c.315C>T | ||
| ENST00000639341.1:c.205C>T | ||
| ENST00000639770.1:c.718C>T | ENSP00000491999.1:n.718C>T | |
| ENST00000640390.1:n.610C>T | ||
| ENST00000640469.1:c.44C>T | ENSP00000491875.1:p.Ala15Val | |
| ENST00000640560.1:n.456C>T | ||
| ENST00000640893.1:c.*78C>T | ENSP00000492677.1:n.*78C>T | |
| ENST00000262493.10:c.680C>T | ENSP00000262493.6:p.Ala227Val | |
| ENST00000262494.11:c.680C>T | ENSP00000262494.7:p.Ala227Val | |
| ENST00000568375.1:n.72C>T | ||
| NM_020988.2:c.680C>T | NP_066268.1:p.Ala227Val | |
| NM_138736.2:c.680C>T | NP_620073.2:p.Ala227Val | |
| XM_011523003.1:c.554C>T | XP_011521305.1:p.Ala185Val | |
| XM_011523003.3:c.554C>T | XP_011521305.1:p.Ala185Val | |
| NM_020988.3:c.680C>T MANE Select | NP_066268.1:p.Ala227Val | |
| NM_138736.3:c.680C>T | NP_620073.2:p.Ala227Val |