Linked Data
dbSNP Id:
rs1393616057
gnomAD v2:
10-86007406-C-A
gnomAD v3:
10-84247650-C-A
gnomAD v4:
10-84247650-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.84247650C>A , CM000672.2:g.84247650C>A | GRCh38 |
| NC_000010.10:g.86007406C>A , CM000672.1:g.86007406C>A | GRCh37 |
| NC_000010.9:g.85997386C>A | NCBI36 |
| NG_009106.1:g.7598C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358110.7:c.139C>A | ENSP00000350823.5:p.Leu47Met | |
| ENST00000359452.9:c.139C>A | ENSP00000352427.4:p.Leu47Met | |
| ENST00000478727.6:c.*210C>A | ENSP00000498966.1:n.*210C>A | |
| ENST00000483744.6:c.139C>A | ENSP00000498992.1:p.Leu47Met | |
| ENST00000650682.1:c.-399C>A | ENSP00000498223.1:n.-399C>A | |
| ENST00000650774.1:c.89C>A | ENSP00000498908.1:p.Ala30Asp | |
| ENST00000651155.1:c.139C>A | ENSP00000499193.1:p.Leu47Met | |
| ENST00000651237.1:c.-399C>A | ENSP00000498404.1:n.-399C>A | |
| ENST00000652073.1:c.-399C>A | ENSP00000498800.1:n.-399C>A | |
| ENST00000652092.2:c.139C>A MANE Select | ENSP00000498299.1:p.Leu47Met | |
| ENST00000652122.1:c.139C>A | ENSP00000498917.1:p.Leu47Met | |
| ENST00000652310.1:c.*67C>A | ENSP00000498927.1:n.*67C>A | |
| ENST00000358110.6:c.139C>A | ENSP00000350823.5:p.Leu47Met | |
| ENST00000359452.8:c.139C>A | ENSP00000352427.4:p.Leu47Met | |
| ENST00000372092.3:c.89C>A | ENSP00000361164.3:p.Ala30Asp | |
| ENST00000469446.5:n.177C>A | ||
| ENST00000478727.5:n.177C>A | ||
| ENST00000483660.5:n.108-1272C>A | ||
| ENST00000483771.5:n.91C>A | ||
| NM_001012720.1:c.139C>A | NP_001012738.1:p.Leu47Met | |
| NM_001012722.1:c.139C>A | NP_001012740.1:p.Leu47Met | |
| NM_002921.3:c.139C>A | NP_002912.2:p.Leu47Met | |
| XM_011540028.1:c.166C>A | XP_011538330.1:p.Leu56Met | |
| XM_024448118.1:c.139C>A | XP_024303886.1:p.Leu47Met | |
| XR_002957005.1:n.1489C>A | ||
| NM_001012720.2:c.139C>A MANE Select | NP_001012738.1:p.Leu47Met | |
| NM_001012722.2:c.139C>A | NP_001012740.1:p.Leu47Met | |
| NM_002921.4:c.139C>A | NP_002912.2:p.Leu47Met |