Linked Data
ClinVar Variation Id:
127909
dbSNP Id:
rs570930882
ExAC:
16:68847351 G / A
gnomAD v2:
16-68847351-G-A
gnomAD v3:
16-68813448-G-A
gnomAD v4:
16-68813448-G-A
COSMIC:
COSM5048626
ERepo:
CA288025/MONDO:0100488/007
PubMed:
PMID:27227907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68813448G>A , CM000678.2:g.68813448G>A | GRCh38 |
| NC_000016.9:g.68847351G>A , CM000678.1:g.68847351G>A | GRCh37 |
| NC_000016.8:g.67404852G>A | NCBI36 |
| NG_008021.1:g.81157G>A , LRG_301:g.81157G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1273G>A MANE Select | ENSP00000261769.4:p.Val425Ile | |
| ENST00000261769.9:c.1273G>A | ENSP00000261769.4:p.Val425Ile | |
| ENST00000422392.6:c.1137+1185G>A | ENSP00000414946.2:n.1137+1185G>A | |
| ENST00000562836.5:n.1344G>A | ||
| ENST00000566510.5:c.1117G>A | ENSP00000458139.1:p.Val373Ile | |
| ENST00000566612.5:c.1273G>A | ENSP00000454782.1:p.Val425Ile | |
| ENST00000611625.4:c.1273G>A | ENSP00000481063.1:p.Val425Ile | |
| ENST00000612417.4:c.1273G>A | ENSP00000478360.1:p.Val425Ile | |
| ENST00000621016.4:c.1273G>A | ENSP00000480664.1:p.Val425Ile | |
| NM_004360.3:c.1273G>A , LRG_301t1:c.1273G>A | NP_004351.1:p.Val425Ile | |
| XM_011523488.1:c.538G>A | XP_011521790.1:p.Val180Ile | |
| XM_011523489.1:c.538G>A | XP_011521791.1:p.Val180Ile | |
| NM_001317184.1:c.1137+1185G>A | NP_001304113.1:n.1137+1185G>A | |
| NM_001317185.1:c.-343G>A | NP_001304114.1:n.-343G>A | |
| NM_001317186.1:c.-547G>A | NP_001304115.1:n.-547G>A | |
| NM_004360.4:c.1273G>A | NP_004351.1:p.Val425Ile | |
| NM_004360.5:c.1273G>A MANE Select | NP_004351.1:p.Val425Ile | |
| NM_001317184.2:c.1137+1185G>A | NP_001304113.1:n.1137+1185G>A | |
| NM_001317185.2:c.-343G>A | NP_001304114.1:n.-343G>A | |
| NM_001317186.2:c.-547G>A | NP_001304115.1:n.-547G>A |