Linked Data
ClinVar Variation Id:
3060365
ClinVar RCV Id:
RCV003977305
dbSNP Id:
rs5475
ExAC:
16:72094348 G / A
gnomAD v2:
16-72094348-G-A
gnomAD v3:
16-72060449-G-A
gnomAD v4:
16-72060449-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72060449G>A , CM000678.2:g.72060449G>A | GRCh38 |
| NC_000016.9:g.72094348G>A , CM000678.1:g.72094348G>A | GRCh37 |
| NC_000016.8:g.70651849G>A | NCBI36 |
| NG_012651.1:g.10841G>A | |
| NG_030311.1:g.2224G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355906.10:c.780G>A (HP) MANE Select | ENSP00000348170.5:p.Glu260= | |
| ENST00000228226.12:c.405G>A (HP) | ENSP00000228226.9:p.Glu135= | |
| ENST00000355906.9:c.780G>A (HP) | ENSP00000348170.5:p.Glu260= | |
| ENST00000357763.8:c.888G>A (HP) | ENSP00000350406.5:p.Glu296= | |
| ENST00000398131.6:c.603G>A (HP) | ENSP00000381199.2:p.Glu201= | |
| ENST00000562153.5:c.285-16092C>T (TXNL4B) | ENSP00000454635.1:n.285-16092C>T | |
| ENST00000562526.5:c.266-214G>A (HP) | ENSP00000454413.1:n.266-214G>A | |
| ENST00000564499.5:c.483G>A (HP) | ENSP00000456503.1:p.Glu161= | |
| ENST00000565574.5:c.603G>A (HP) | ENSP00000454966.1:p.Glu201= | |
| ENST00000566821.1:n.2419G>A (HP) | ||
| ENST00000567185.7:c.772G>A (HP) | ||
| ENST00000567612.2:c.655G>A (HP) | ||
| ENST00000570083.5:c.603G>A (HP) | ENSP00000457629.1:p.Glu201= | |
| ENST00000613898.1:c.405G>A (HP) | ENSP00000478279.1:p.Glu135= | |
| NM_001126102.1:c.603G>A (HP) | NP_001119574.1:p.Glu201= | |
| NM_005143.3:c.780G>A (HP) | NP_005134.1:p.Glu260= | |
| XM_005255922.3:c.603G>A (HP) | XP_005255979.2:p.Glu201= | |
| NM_001126102.2:c.603G>A (HP) | NP_001119574.1:p.Glu201= | |
| NM_001318138.1:c.603G>A (HP) | NP_001305067.1:p.Glu201= | |
| NM_005143.4:c.780G>A (HP) | NP_005134.1:p.Glu260= | |
| XM_017023377.2:c.285-16092C>T (TXNL4B) | XP_016878866.1:n.285-16092C>T | |
| NM_001318138.2:c.603G>A (HP) | NP_001305067.1:p.Glu201= | |
| NM_005143.5:c.780G>A (HP) MANE Select | NP_005134.1:p.Glu260= | |
| NM_001126102.3:c.603G>A (HP) | NP_001119574.1:p.Glu201= |