Linked Data
dbSNP Id:
rs760158365
ExAC:
12:8814692 G / A
gnomAD v2:
12-8814692-G-A
gnomAD v4:
12-8662096-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8662096G>A , CM000674.2:g.8662096G>A | GRCh38 |
| NC_000012.11:g.8814692G>A , CM000674.1:g.8814692G>A | GRCh37 |
| NC_000012.10:g.8705959G>A | NCBI36 |
| NG_041814.1:g.5793C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359478.7:c.9C>T MANE Select | ENSP00000352455.2:p.Leu3= | |
| ENST00000359478.6:c.9C>T | ENSP00000352455.2:p.Leu3= | |
| ENST00000396549.6:c.9C>T | ENSP00000379798.2:p.Leu3= | |
| ENST00000433590.6:c.9C>T | ENSP00000411997.2:p.Leu3= | |
| ENST00000534833.5:n.60C>T | ||
| ENST00000535336.5:c.9C>T | ENSP00000438525.1:p.Leu3= | |
| ENST00000537009.5:c.9C>T | ENSP00000439289.1:p.Leu3= | |
| ENST00000537128.1:n.273C>T | ||
| ENST00000538107.5:n.273C>T | ||
| ENST00000540087.5:c.9C>T | ENSP00000440496.1:p.Leu3= | |
| ENST00000543369.5:c.9C>T | ENSP00000441492.1:p.Leu3= | |
| ENST00000544211.5:c.9C>T | ENSP00000443839.1:p.Leu3= | |
| ENST00000544889.1:c.9C>T | ENSP00000445799.1:p.Leu3= | |
| NM_001297709.1:c.9C>T | NP_001284638.1:p.Leu3= | |
| NM_001297710.1:c.9C>T | NP_001284639.1:p.Leu3= | |
| NM_001297711.1:c.9C>T | NP_001284640.1:p.Leu3= | |
| NM_001297712.1:c.9C>T | NP_001284641.1:p.Leu3= | |
| NM_003480.3:c.9C>T | NP_003471.1:p.Leu3= | |
| NR_123733.1:n.273C>T | ||
| NR_123734.1:n.273C>T | ||
| NM_003480.4:c.9C>T MANE Select | NP_003471.1:p.Leu3= | |
| NM_001297709.2:c.9C>T | NP_001284638.1:p.Leu3= | |
| NM_001297710.2:c.9C>T | NP_001284639.1:p.Leu3= | |
| NM_001297711.2:c.9C>T | NP_001284640.1:p.Leu3= | |
| NM_001297712.2:c.9C>T | NP_001284641.1:p.Leu3= | |
| NR_123733.2:n.211C>T | ||
| NR_123734.2:n.211C>T |