Linked Data
dbSNP Id:
rs746596000
ExAC:
2:27532791 G / A
gnomAD v2:
2-27532791-G-A
gnomAD v4:
2-27309923-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27309923G>A , CM000664.2:g.27309923G>A | GRCh38 |
| NC_000002.11:g.27532791G>A , CM000664.1:g.27532791G>A | GRCh37 |
| NC_000002.10:g.27386295G>A | NCBI36 |
| NG_008075.1:g.17641C>T | |
| NG_033055.1:g.3340C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.520C>T MANE Select | ENSP00000369383.1:p.His174Tyr | |
| ENST00000233545.6:c.520C>T | ENSP00000233545.2:p.His174Tyr | |
| ENST00000357186.10:c.352C>T | ENSP00000349713.6:p.His118Tyr | |
| ENST00000380044.5:c.520C>T | ENSP00000369383.1:p.His174Tyr | |
| ENST00000402310.5:c.467C>T | ENSP00000383955.1:p.Thr156Ile | |
| ENST00000402722.5:c.*99C>T | ENSP00000386000.1:n.*99C>T | |
| ENST00000405076.5:c.331C>T | ENSP00000385175.1:p.His111Tyr | |
| ENST00000405983.5:c.565C>T | ENSP00000384586.1:p.His189Tyr | |
| ENST00000415514.5:c.*321C>T | ENSP00000388043.1:n.*321C>T | |
| ENST00000426513.6:c.*185C>T | ENSP00000403824.2:n.*185C>T | |
| ENST00000430991.5:c.354C>T | ||
| ENST00000620797.4:n.193C>T | ||
| ENST00000621183.4:n.823C>T | ||
| NM_002437.4:c.520C>T | NP_002428.1:p.His174Tyr | |
| XM_005264326.2:c.520C>T | XP_005264383.1:p.His174Tyr | |
| XM_005264327.2:c.361C>T | XP_005264384.1:p.His121Tyr | |
| XM_006712021.2:c.472C>T | XP_006712084.1:p.His158Tyr | |
| XM_005264326.4:c.520C>T | XP_005264383.1:p.His174Tyr | |
| XM_006712021.3:c.472C>T | XP_006712084.1:p.His158Tyr | |
| XM_017004150.1:c.502C>T | XP_016859639.1:p.His168Tyr | |
| XM_017004151.1:c.472C>T | XP_016859640.1:p.His158Tyr | |
| XM_017004152.1:c.361C>T | XP_016859641.1:p.His121Tyr | |
| XM_024452913.1:c.472C>T | XP_024308681.1:p.His158Tyr | |
| NM_002437.5:c.520C>T MANE Select | NP_002428.1:p.His174Tyr |