Linked Data
dbSNP Id:
rs750495707
ExAC:
12:6442606 C / T
gnomAD v2:
12-6442606-C-T
gnomAD v4:
12-6333440-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333440C>T , CM000674.2:g.6333440C>T | GRCh38 |
| NC_000012.11:g.6442606C>T , CM000674.1:g.6442606C>T | GRCh37 |
| NC_000012.10:g.6312867C>T | NCBI36 |
| NG_007506.1:g.13656G>A , LRG_193:g.13656G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.433G>A | ||
| ENST00000437813.8:c.399G>A | ENSP00000513672.1:p.Arg133= | |
| ENST00000440083.7:c.399G>A | ENSP00000413224.3:p.Arg133= | |
| ENST00000535958.2:c.*226G>A | ENSP00000513673.1:n.*226G>A | |
| ENST00000698339.1:c.399G>A | ENSP00000513670.1:p.Arg133= | |
| ENST00000698340.1:c.399G>A | ENSP00000513671.1:p.Arg133= | |
| ENST00000162749.7:c.399G>A MANE Select | ENSP00000162749.2:p.Arg133= | |
| ENST00000162749.6:c.399G>A | ENSP00000162749.2:p.Arg133= | |
| ENST00000366159.8:c.399G>A | ENSP00000380389.3:p.Arg133= | |
| ENST00000437813.7:n.360G>A | ||
| ENST00000440083.6:c.399G>A | ENSP00000413224.2:p.Arg133= | |
| ENST00000534885.5:c.245G>A | ENSP00000441803.1:p.Gly82Asp | |
| ENST00000537842.5:n.3G>A | ||
| ENST00000539372.5:c.399G>A | ENSP00000442059.1:p.Arg133= | |
| ENST00000540022.5:c.270G>A | ENSP00000438343.1:p.Arg90= | |
| ENST00000543048.5:c.*10G>A | ENSP00000439981.1:n.*10G>A | |
| ENST00000543995.5:c.205G>A | ENSP00000442405.1:p.Ala69Thr | |
| NM_001065.3:c.399G>A , LRG_193t1:c.399G>A | NP_001056.1:p.Arg133= | |
| NM_001346091.1:c.75G>A | NP_001333020.1:p.Arg25= | |
| NM_001346092.1:c.-179G>A | NP_001333021.1:n.-179G>A | |
| NR_144351.1:n.702G>A | ||
| NM_001065.4:c.399G>A MANE Select | NP_001056.1:p.Arg133= | |
| NM_001346091.2:c.75G>A | NP_001333020.1:p.Arg25= | |
| NM_001346092.2:c.-179G>A | NP_001333021.1:n.-179G>A | |
| NR_144351.2:n.661G>A |