Linked Data
dbSNP Id:
rs200501751
ExAC:
12:6442281 G / A
gnomAD v2:
12-6442281-G-A
gnomAD v4:
12-6333115-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333115G>A , CM000674.2:g.6333115G>A | GRCh38 |
| NC_000012.11:g.6442281G>A , CM000674.1:g.6442281G>A | GRCh37 |
| NC_000012.10:g.6312542G>A | NCBI36 |
| NG_007506.1:g.13981C>T , LRG_193:g.13981C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.539C>T | ||
| ENST00000437813.8:c.505C>T | ENSP00000513672.1:p.His169Tyr | |
| ENST00000440083.7:c.724C>T | ENSP00000413224.3:p.His242Tyr | |
| ENST00000535958.2:c.*332C>T | ENSP00000513673.1:n.*332C>T | |
| ENST00000698339.1:c.505C>T | ENSP00000513670.1:p.His169Tyr | |
| ENST00000698340.1:c.505C>T | ENSP00000513671.1:p.His169Tyr | |
| ENST00000162749.7:c.505C>T MANE Select | ENSP00000162749.2:p.His169Tyr | |
| ENST00000162749.6:c.505C>T | ENSP00000162749.2:p.His169Tyr | |
| ENST00000366159.8:c.505C>T | ENSP00000380389.3:p.His169Tyr | |
| ENST00000437813.7:n.466C>T | ||
| ENST00000440083.6:c.724C>T | ENSP00000413224.2:p.His242Tyr | |
| ENST00000534885.5:c.351C>T | ENSP00000441803.1:p.Ala117= | |
| ENST00000537842.5:n.109C>T | ||
| ENST00000539372.5:c.505C>T | ENSP00000442059.1:p.His169Tyr | |
| ENST00000540022.5:c.376C>T | ENSP00000438343.1:p.His126Tyr | |
| ENST00000543048.5:c.*116C>T | ENSP00000439981.1:n.*116C>T | |
| ENST00000543995.5:c.*92C>T | ENSP00000442405.1:n.*92C>T | |
| NM_001065.3:c.505C>T , LRG_193t1:c.505C>T | NP_001056.1:p.His169Tyr | |
| NM_001346091.1:c.181C>T | NP_001333020.1:p.His61Tyr | |
| NM_001346092.1:c.-73C>T | NP_001333021.1:n.-73C>T | |
| NR_144351.1:n.808C>T | ||
| NM_001065.4:c.505C>T MANE Select | NP_001056.1:p.His169Tyr | |
| NM_001346091.2:c.181C>T | NP_001333020.1:p.His61Tyr | |
| NM_001346092.2:c.-73C>T | NP_001333021.1:n.-73C>T | |
| NR_144351.2:n.767C>T |