Linked Data
dbSNP Id:
rs777794859
gnomAD v4:
18-46087146-G-T
MyVariant Identifiers:
chr18:g.43667112G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46087146G>T , CM000680.2:g.46087146G>T | GRCh38 |
| NC_000018.9:g.43667112G>T , CM000680.1:g.43667112G>T | GRCh37 |
| NC_000018.8:g.41921110G>T | NCBI36 |
| NG_041769.1:g.22088C>A | |
| NG_041769.2:g.27088C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398752.11:c.1038C>A MANE Select | ENSP00000381736.5:p.Ser346= | |
| ENST00000282050.6:c.1038C>A | ENSP00000282050.2:p.Ser346= | |
| ENST00000398752.10:c.1038C>A | ENSP00000381736.5:p.Ser346= | |
| ENST00000586523.1:n.1551C>A | ||
| ENST00000586592.5:c.*1101C>A | ENSP00000466275.3:n.*1101C>A | |
| ENST00000590156.5:c.*934C>A | ENSP00000466309.1:n.*934C>A | |
| ENST00000590665.5:c.972C>A | ENSP00000467037.1:p.Ser324= | |
| ENST00000592364.5:c.227-82C>A | ENSP00000468618.1:n.227-82C>A | |
| ENST00000593152.6:c.888C>A | ENSP00000465477.2:p.Ser296= | |
| NM_001001935.2:c.888C>A | NP_001001935.1:p.Ser296= | |
| NM_001001937.1:c.1038C>A | NP_001001937.1:p.Ser346= | |
| NM_001257334.1:c.972C>A | NP_001244263.1:p.Ser324= | |
| NM_001257335.1:c.888C>A | NP_001244264.1:p.Ser296= | |
| NM_004046.5:c.1038C>A | NP_004037.1:p.Ser346= | |
| XM_011526018.1:c.888C>A | XP_011524320.1:p.Ser296= | |
| XM_017025789.1:c.1038C>A | XP_016881278.1:p.Ser346= | |
| NM_004046.6:c.1038C>A MANE Select | NP_004037.1:p.Ser346= | |
| NM_001001935.3:c.888C>A | NP_001001935.1:p.Ser296= | |
| NM_001257334.2:c.972C>A | NP_001244263.1:p.Ser324= | |
| NM_001001937.2:c.1038C>A | NP_001001937.1:p.Ser346= | |
| NM_001257335.2:c.888C>A | NP_001244264.1:p.Ser296= |