Linked Data
dbSNP Id:
rs2306536
ExAC:
12:133423662 C / T
gnomAD v2:
12-133423662-C-T
gnomAD v3:
12-132847076-C-T
gnomAD v4:
12-132847076-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132847076C>T , CM000674.2:g.132847076C>T | GRCh38 |
| NC_000012.11:g.133423662C>T , CM000674.1:g.133423662C>T | GRCh37 |
| NC_000012.10:g.131933735C>T | NCBI36 |
| NG_033999.1:g.45543G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450056.7:c.1702G>A MANE Select | ENSP00000398735.2:p.Val568Met | |
| ENST00000266880.11:c.1615G>A | ENSP00000266880.8:p.Val539Met | |
| ENST00000315585.11:c.*156G>A | ENSP00000320557.8:n.*156G>A | |
| ENST00000432561.6:c.1738G>A | ENSP00000392395.2:p.Val580Met | |
| ENST00000443047.6:c.1462G>A | ENSP00000416431.2:p.Val488Met | |
| ENST00000450056.6:c.1702G>A | ENSP00000398735.2:p.Val568Met | |
| ENST00000535527.5:c.308G>A | ENSP00000478791.1:n.308G>A | |
| ENST00000536843.5:n.962G>A | ||
| ENST00000538235.2:n.269G>A | ||
| ENST00000541341.5:n.163G>A | ||
| ENST00000544093.5:c.256G>A | ||
| ENST00000544268.5:n.1006G>A | ||
| ENST00000545046.5:n.727G>A | ||
| NM_001161344.1:c.1738G>A | NP_001154816.1:p.Val580Met | |
| NM_001161345.1:c.1735G>A | NP_001154817.1:p.Val579Met | |
| NM_001161346.1:c.1702G>A | NP_001154818.1:p.Val568Met | |
| NM_001161347.1:c.1462G>A | NP_001154819.1:p.Val488Met | |
| NM_018223.2:c.1615G>A | NP_060693.2:p.Val539Met | |
| NM_001161346.2:c.1702G>A MANE Select | NP_001154818.1:p.Val568Met |