Linked Data
ClinVar Variation Id:
420243
dbSNP Id:
rs200334446
ExAC:
12:57884160 G / A
gnomAD v2:
12-57884160-G-A
gnomAD v3:
12-57490377-G-A
gnomAD v4:
12-57490377-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57490377G>A , CM000674.2:g.57490377G>A | GRCh38 |
| NC_000012.11:g.57884160G>A , CM000674.1:g.57884160G>A | GRCh37 |
| NC_000012.10:g.56170427G>A | NCBI36 |
| NG_034077.1:g.7425G>A | |
| NG_023205.2:g.3438C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.661G>A MANE Select | ENSP00000262027.5:p.Glu221Lys | |
| ENST00000262027.9:c.661G>A | ENSP00000262027.5:p.Glu221Lys | |
| ENST00000447721.6:n.303G>A | ||
| ENST00000537638.6:c.661G>A | ENSP00000446168.2:p.Glu221Lys | |
| ENST00000545888.6:c.*162G>A | ENSP00000439307.2:n.*162G>A | |
| ENST00000548674.5:n.555G>A | ||
| ENST00000549074.5:c.*26G>A | ENSP00000447258.1:n.*26G>A | |
| ENST00000551431.5:c.*162G>A | ENSP00000446729.1:n.*162G>A | |
| ENST00000551892.1:c.*26G>A | ENSP00000450018.1:n.*26G>A | |
| ENST00000552371.1:c.276G>A | ||
| ENST00000628866.2:c.*162G>A | ENSP00000486738.1:n.*162G>A | |
| NM_004990.3:c.661G>A | NP_004981.2:p.Glu221Lys | |
| XM_006719398.2:c.-42G>A | XP_006719461.1:n.-42G>A | |
| XM_011538353.1:c.661G>A | XP_011536655.1:p.Glu221Lys | |
| XM_006719398.4:c.-42G>A | XP_006719461.1:n.-42G>A | |
| XR_001748704.2:n.684G>A | ||
| XR_002957327.1:n.608G>A | ||
| NM_004990.4:c.661G>A MANE Select | NP_004981.2:p.Glu221Lys |