Linked Data
ClinVar Variation Id:
883626
dbSNP Id:
rs746860631
ExAC:
12:102179849 G / A
gnomAD v2:
12-102179849-G-A
gnomAD v3:
12-101786071-G-A
gnomAD v4:
12-101786071-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786071G>A , CM000674.2:g.101786071G>A | GRCh38 |
| NC_000012.11:g.102179849G>A , CM000674.1:g.102179849G>A | GRCh37 |
| NC_000012.10:g.100703980G>A | NCBI36 |
| NG_021243.1:g.49797C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.512C>T MANE Select | ENSP00000299314.7:p.Ala171Val | |
| ENST00000299314.11:c.512C>T | ENSP00000299314.7:p.Ala171Val | |
| ENST00000549940.5:c.512C>T | ENSP00000449150.1:p.Ala171Val | |
| ENST00000550352.1:n.306C>T | ||
| ENST00000552681.1:c.146C>T | ENSP00000449217.1:p.Ala49Val | |
| NM_024312.4:c.512C>T | NP_077288.2:p.Ala171Val | |
| XM_006719593.2:c.512C>T | XP_006719656.1:p.Ala171Val | |
| XM_011538731.1:c.431C>T | XP_011537033.1:p.Ala144Val | |
| XM_006719593.3:c.512C>T | XP_006719656.1:p.Ala171Val | |
| XM_011538731.2:c.431C>T | XP_011537033.1:p.Ala144Val | |
| XM_017019961.1:c.296C>T | XP_016875450.1:p.Ala99Val | |
| XM_017019962.2:c.-839C>T | XP_016875451.1:n.-839C>T | |
| NM_024312.5:c.512C>T MANE Select | NP_077288.2:p.Ala171Val |