Linked Data
dbSNP Id:
rs778922941
ExAC:
12:6442602 A / G
gnomAD v2:
12-6442602-A-G
gnomAD v4:
12-6333436-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333436A>G , CM000674.2:g.6333436A>G | GRCh38 |
| NC_000012.11:g.6442602A>G , CM000674.1:g.6442602A>G | GRCh37 |
| NC_000012.10:g.6312863A>G | NCBI36 |
| NG_007506.1:g.13660T>C , LRG_193:g.13660T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.437T>C | ||
| ENST00000437813.8:c.403T>C | ENSP00000513672.1:p.Tyr135His | |
| ENST00000440083.7:c.403T>C | ENSP00000413224.3:p.Tyr135His | |
| ENST00000535958.2:c.*230T>C | ENSP00000513673.1:n.*230T>C | |
| ENST00000698339.1:c.403T>C | ENSP00000513670.1:p.Tyr135His | |
| ENST00000698340.1:c.403T>C | ENSP00000513671.1:p.Tyr135His | |
| ENST00000162749.7:c.403T>C MANE Select | ENSP00000162749.2:p.Tyr135His | |
| ENST00000162749.6:c.403T>C | ENSP00000162749.2:p.Tyr135His | |
| ENST00000366159.8:c.403T>C | ENSP00000380389.3:p.Tyr135His | |
| ENST00000437813.7:n.364T>C | ||
| ENST00000440083.6:c.403T>C | ENSP00000413224.2:p.Tyr135His | |
| ENST00000534885.5:c.249T>C | ENSP00000441803.1:p.Ile83= | |
| ENST00000537842.5:n.7T>C | ||
| ENST00000539372.5:c.403T>C | ENSP00000442059.1:p.Tyr135His | |
| ENST00000540022.5:c.274T>C | ENSP00000438343.1:p.Tyr92His | |
| ENST00000543048.5:c.*14T>C | ENSP00000439981.1:n.*14T>C | |
| ENST00000543995.5:c.209T>C | ENSP00000442405.1:p.Leu70Ser | |
| NM_001065.3:c.403T>C , LRG_193t1:c.403T>C | NP_001056.1:p.Tyr135His | |
| NM_001346091.1:c.79T>C | NP_001333020.1:p.Tyr27His | |
| NM_001346092.1:c.-175T>C | NP_001333021.1:n.-175T>C | |
| NR_144351.1:n.706T>C | ||
| NM_001065.4:c.403T>C MANE Select | NP_001056.1:p.Tyr135His | |
| NM_001346091.2:c.79T>C | NP_001333020.1:p.Tyr27His | |
| NM_001346092.2:c.-175T>C | NP_001333021.1:n.-175T>C | |
| NR_144351.2:n.665T>C |