Linked Data
dbSNP Id:
rs1137631
ExAC:
6:29913037 G / A
gnomAD v2:
6-29913037-G-A
gnomAD v3:
6-29945260-G-A
gnomAD v4:
6-29945260-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29945260G>A , CM000668.2:g.29945260G>A | GRCh38 |
| NC_000006.11:g.29913037G>A , CM000668.1:g.29913037G>A | GRCh37 |
| NC_000006.10:g.30021016G>A | NCBI36 |
| NG_029217.2:g.7796G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000638375.2:c.955G>A | ENSP00000492789.2:p.Val319Met | |
| ENST00000706892.1:n.2612G>A | ||
| ENST00000706893.1:c.*56G>A | ENSP00000516609.1:n.*56G>A | |
| ENST00000706894.1:c.1072G>A | ENSP00000516610.1:p.Val358Met | |
| ENST00000706895.1:n.1892G>A | ||
| ENST00000706896.1:n.2368G>A | ||
| ENST00000706897.1:n.1790G>A | ||
| ENST00000706898.1:c.1090G>A | ENSP00000516611.1:p.Val364Met | |
| ENST00000706899.1:n.1926G>A | ||
| ENST00000706900.1:c.988G>A | ENSP00000516617.1:p.Val330Met | |
| ENST00000706901.1:c.1072G>A | ENSP00000516612.1:p.Val358Met | |
| ENST00000706902.1:c.1072G>A | ENSP00000516613.1:p.Val358Met | |
| ENST00000706903.1:c.1072G>A | ENSP00000516614.1:p.Val358Met | |
| ENST00000706904.1:c.1072G>A | ENSP00000516615.1:p.Val358Met | |
| ENST00000706905.1:c.1072G>A | ENSP00000516616.1:p.Val358Met | |
| ENST00000376809.10:c.1072G>A MANE Select | ENSP00000366005.5:p.Val358Met | |
| ENST00000638375.1:c.955G>A | ENSP00000492789.1:p.Val319Met | |
| ENST00000376802.2:c.896-191G>A | ENSP00000365998.2:n.896-191G>A | |
| ENST00000376806.9:c.1090G>A | ENSP00000366002.5:p.Val364Met | |
| ENST00000376809.9:c.1072G>A | ENSP00000366005.5:p.Val358Met | |
| ENST00000396634.5:c.1072G>A | ENSP00000379873.1:p.Val358Met | |
| ENST00000461903.1:n.1331G>A | ||
| ENST00000479320.5:n.1313G>A | ||
| ENST00000495183.5:n.1311G>A | ||
| ENST00000496081.5:n.1331G>A | ||
| NM_002116.7:c.1072G>A | NP_002107.3:p.Val358Met | |
| NM_002116.8:c.1072G>A MANE Select | NP_002107.3:p.Val358Met |