Linked Data
dbSNP Id:
rs747473912
ExAC:
22:43558925 C / T
gnomAD v2:
22-43558925-C-T
gnomAD v4:
22-43162919-C-T
COSMIC:
COSM1034848
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43162919C>T , CM000684.2:g.43162919C>T | GRCh38 |
| NC_000022.10:g.43558925C>T , CM000684.1:g.43558925C>T | GRCh37 |
| NC_000022.9:g.41888869C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337554.8:c.438C>T MANE Select | ENSP00000338004.3:p.Phe146= | |
| ENST00000329563.8:c.438C>T | ENSP00000328973.4:p.Phe146= | |
| ENST00000337554.7:c.438C>T | ENSP00000338004.3:p.Phe146= | |
| ENST00000396265.4:c.438C>T | ENSP00000379563.4:p.Phe146= | |
| ENST00000583777.5:c.126C>T | ENSP00000463495.1:p.Phe42= | |
| NM_000714.5:c.438C>T | NP_000705.2:p.Phe146= | |
| NM_001256530.1:c.438C>T | NP_001243459.1:p.Phe146= | |
| NM_001256531.1:c.438C>T | NP_001243460.1:p.Phe146= | |
| NR_046308.1:n.347C>T | ||
| NM_000714.6:c.438C>T MANE Select | NP_000705.2:p.Phe146= | |
| NR_046308.2:n.302C>T |