Linked Data
dbSNP Id:
rs748590375
ExAC:
2:27535561 T / A
gnomAD v2:
2-27535561-T-A
gnomAD v3:
2-27312694-T-A
gnomAD v4:
2-27312694-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27312694T>A , CM000664.2:g.27312694T>A | GRCh38 |
| NC_000002.11:g.27535561T>A , CM000664.1:g.27535561T>A | GRCh37 |
| NC_000002.10:g.27389065T>A | NCBI36 |
| NG_008075.1:g.14871A>T | |
| NG_033055.1:g.570A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380044.6:c.265A>T MANE Select | ENSP00000369383.1:p.Met89Leu | |
| ENST00000233545.6:c.265A>T | ENSP00000233545.2:p.Met89Leu | |
| ENST00000357186.10:c.97A>T | ENSP00000349713.6:p.Met33Leu | |
| ENST00000380044.5:c.265A>T | ENSP00000369383.1:p.Met89Leu | |
| ENST00000402310.5:c.265A>T | ENSP00000383955.1:p.Met89Leu | |
| ENST00000402722.5:c.230A>T | ENSP00000386000.1:p.Asp77Val | |
| ENST00000403262.6:c.265A>T | ENSP00000385671.1:p.Met89Leu | |
| ENST00000405076.5:c.186+300A>T | ENSP00000385175.1:n.186+300A>T | |
| ENST00000405983.5:c.310A>T | ENSP00000384586.1:p.Met104Leu | |
| ENST00000415514.5:c.*66A>T | ENSP00000388043.1:n.*66A>T | |
| ENST00000426513.6:c.230A>T | ENSP00000403824.2:p.Asp77Val | |
| ENST00000428910.5:c.187A>T | ENSP00000405235.1:p.Met63Leu | |
| ENST00000430991.5:c.195A>T | ||
| ENST00000475085.1:n.293A>T | ||
| ENST00000616446.1:n.242A>T | ||
| ENST00000616707.1:n.694A>T | ||
| ENST00000617583.4:n.291A>T | ||
| ENST00000621183.4:n.321A>T | ||
| ENST00000621470.4:n.281A>T | ||
| ENST00000622003.4:n.438A>T | ||
| NM_002437.4:c.265A>T | NP_002428.1:p.Met89Leu | |
| XM_005264326.2:c.265A>T | XP_005264383.1:p.Met89Leu | |
| XM_005264327.2:c.106A>T | XP_005264384.1:p.Met36Leu | |
| XM_006712021.2:c.217A>T | XP_006712084.1:p.Met73Leu | |
| XM_005264326.4:c.265A>T | XP_005264383.1:p.Met89Leu | |
| XM_006712021.3:c.217A>T | XP_006712084.1:p.Met73Leu | |
| XM_017004150.1:c.247A>T | XP_016859639.1:p.Met83Leu | |
| XM_017004151.1:c.217A>T | XP_016859640.1:p.Met73Leu | |
| XM_017004152.1:c.106A>T | XP_016859641.1:p.Met36Leu | |
| XM_024452913.1:c.217A>T | XP_024308681.1:p.Met73Leu | |
| NM_002437.5:c.265A>T MANE Select | NP_002428.1:p.Met89Leu |