Linked Data
ClinVar Variation Id:
366547
dbSNP Id:
rs745614955
ExAC:
9:312111 C / A
gnomAD v2:
9-312111-C-A
gnomAD v3:
9-312111-C-A
gnomAD v4:
9-312111-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.312111C>A , CM000671.2:g.312111C>A | GRCh38 |
| NC_000009.11:g.312111C>A , CM000671.1:g.312111C>A | GRCh37 |
| NC_000009.10:g.302111C>A | NCBI36 |
| NG_017007.1:g.102247C>A , LRG_196:g.102247C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.482C>A | ENSP00000371766.2:p.Ala161Asp | |
| ENST00000474772.2:n.132C>A | ||
| ENST00000483757.6:c.482C>A | ENSP00000417691.2:p.Ala161Asp | |
| ENST00000682249.1:c.482C>A | ENSP00000507731.1:p.Ala161Asp | |
| ENST00000684384.1:n.795C>A | ||
| ENST00000432829.7:c.686C>A MANE Select | ENSP00000394888.3:p.Ala229Asp | |
| ENST00000382341.5:n.581C>A | ||
| ENST00000432829.6:c.686C>A | ENSP00000394888.3:p.Ala229Asp | |
| ENST00000453981.5:c.482C>A | ENSP00000408464.2:p.Ala161Asp | |
| ENST00000454469.6:n.795C>A | ||
| ENST00000469391.5:c.482C>A | ENSP00000419438.1:p.Ala161Asp | |
| ENST00000474772.1:n.154C>A | ||
| ENST00000478380.5:n.565C>A | ||
| ENST00000483757.5:c.482C>A | ENSP00000417691.1:p.Ala161Asp | |
| ENST00000495184.5:n.547C>A | ||
| ENST00000524396.5:c.*649C>A | ENSP00000436628.1:n.*649C>A | |
| NM_001190458.1:c.482C>A | NP_001177387.1:p.Ala161Asp | |
| NM_001193536.1:c.482C>A | NP_001180465.1:p.Ala161Asp | |
| NM_203447.3:c.686C>A , LRG_196t1:c.686C>A | NP_982272.2:p.Ala229Asp | |
| XM_011518045.1:c.482C>A | XP_011516347.1:p.Ala161Asp | |
| XM_011518046.1:c.548C>A | XP_011516348.1:p.Ala183Asp | |
| XM_011518047.1:c.482C>A | XP_011516349.1:p.Ala161Asp | |
| XM_011518048.1:c.482C>A | XP_011516350.1:p.Ala161Asp | |
| XM_011518045.3:c.482C>A | XP_011516347.1:p.Ala161Asp | |
| XM_011518046.2:c.548C>A | XP_011516348.1:p.Ala183Asp | |
| XM_011518047.3:c.482C>A | XP_011516349.1:p.Ala161Asp | |
| XM_011518048.2:c.482C>A | XP_011516350.1:p.Ala161Asp | |
| XM_017015173.1:c.482C>A | XP_016870662.1:p.Ala161Asp | |
| XM_017015174.1:c.548C>A | XP_016870663.1:p.Ala183Asp | |
| NM_001190458.2:c.482C>A | NP_001177387.1:p.Ala161Asp | |
| NM_001193536.2:c.482C>A | NP_001180465.1:p.Ala161Asp | |
| NM_203447.4:c.686C>A MANE Select | NP_982272.2:p.Ala229Asp |