Linked Data
ClinVar Variation Id:
697332
ClinVar RCV Id:
RCV000864125
dbSNP Id:
rs775540772
ExAC:
14:51054559 G / A
gnomAD v2:
14-51054559-G-A
gnomAD v3:
14-50587841-G-A
gnomAD v4:
14-50587841-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50587841G>A , CM000676.2:g.50587841G>A | GRCh38 |
| NC_000014.8:g.51054559G>A , CM000676.1:g.51054559G>A | GRCh37 |
| NC_000014.7:g.50124309G>A | NCBI36 |
| NG_009028.1:g.59760G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553509.2:c.45G>A | ENSP00000450989.2:p.Ser15= | |
| ENST00000553746.2:n.246G>A | ||
| ENST00000556478.3:c.45G>A | ENSP00000501428.2:p.Ser15= | |
| ENST00000682037.1:c.45G>A | ENSP00000508289.1:p.Ser15= | |
| ENST00000682219.1:n.924G>A | ||
| ENST00000682226.1:n.379G>A | ||
| ENST00000682487.1:n.379G>A | ||
| ENST00000683330.1:n.379G>A | ||
| ENST00000683703.1:n.379G>A | ||
| ENST00000683837.1:n.379G>A | ||
| ENST00000684737.1:n.379G>A | ||
| ENST00000358385.12:c.45G>A MANE Select | ENSP00000351155.7:p.Ser15= | |
| ENST00000674288.1:c.45G>A | ENSP00000501522.1:p.Ser15= | |
| ENST00000674478.1:n.379G>A | ||
| ENST00000674503.1:c.-205G>A | ENSP00000501520.1:n.-205G>A | |
| ENST00000358385.10:c.45G>A | ENSP00000351155.6:p.Ser15= | |
| ENST00000441560.6:c.45G>A | ENSP00000413675.2:p.Ser15= | |
| ENST00000553509.1:c.45G>A | ENSP00000450989.1:p.Ser15= | |
| ENST00000554886.1:c.-150-3100G>A | ENSP00000452074.1:n.-150-3100G>A | |
| ENST00000555960.5:c.45G>A | ENSP00000452506.1:p.Ser15= | |
| ENST00000556478.2:n.549G>A | ||
| ENST00000557735.1:c.-205G>A | ENSP00000451015.1:n.-205G>A | |
| NM_001127713.1:c.45G>A | NP_001121185.1:p.Ser15= | |
| NM_015915.4:c.45G>A | NP_056999.2:p.Ser15= | |
| NM_181598.3:c.45G>A | NP_853629.2:p.Ser15= | |
| NM_015915.5:c.45G>A MANE Select | NP_056999.2:p.Ser15= | |
| NM_181598.4:c.45G>A | NP_853629.2:p.Ser15= |