Linked Data
dbSNP Id:
rs776611123
ExAC:
2:48066585 C / T
gnomAD v2:
2-48066585-C-T
gnomAD v4:
2-47839446-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47839446C>T , CM000664.2:g.47839446C>T | GRCh38 |
| NC_000002.11:g.48066585C>T , CM000664.1:g.48066585C>T | GRCh37 |
| NC_000002.10:g.47920089C>T | NCBI36 |
| NG_008397.1:g.71230G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681999.1:n.292G>A | ||
| ENST00000682451.1:n.264G>A | ||
| ENST00000682975.1:n.310G>A | ||
| ENST00000683894.1:c.163G>A | ENSP00000507789.1:p.Val55Met | |
| ENST00000684085.1:n.292G>A | ||
| ENST00000684712.1:n.523G>A | ||
| ENST00000403359.8:c.415G>A MANE Select | ENSP00000384823.4:p.Val139Met | |
| ENST00000316377.8:c.183G>A | ENSP00000323822.5:p.Glu61= | |
| ENST00000402508.5:c.163G>A | ENSP00000385398.1:p.Val55Met | |
| ENST00000403359.7:c.415G>A | ENSP00000384823.3:p.Val139Met | |
| ENST00000424163.2:c.163G>A | ENSP00000392272.1:p.Val55Met | |
| ENST00000480038.1:n.378G>A | ||
| ENST00000492225.5:n.263G>A | ||
| NM_001190274.1:c.415G>A | NP_001177203.1:p.Val139Met | |
| NM_025133.4:c.163G>A | NP_079409.3:p.Val55Met | |
| XM_005264572.3:c.415G>A | XP_005264629.1:p.Val139Met | |
| XM_005264573.3:c.415G>A | XP_005264630.1:p.Val139Met | |
| XM_005264572.5:c.415G>A | XP_005264629.1:p.Val139Met | |
| XM_005264573.5:c.415G>A | XP_005264630.1:p.Val139Met | |
| XM_017005015.1:c.415G>A | XP_016860504.1:p.Val139Met | |
| XM_017005016.2:c.163G>A | XP_016860505.1:p.Val55Met | |
| XM_017005017.1:c.163G>A | XP_016860506.1:p.Val55Met | |
| NM_001190274.2:c.415G>A MANE Select | NP_001177203.1:p.Val139Met | |
| NM_001374325.1:c.163G>A | NP_001361254.1:p.Val55Met |