ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193150309C>T , CM000663.2:g.193150309C>T | GRCh38 |
| NC_000001.10:g.193119439C>T , CM000663.1:g.193119439C>T | GRCh37 |
| NC_000001.9:g.191386062C>T | NCBI36 |
| NG_012691.1:g.33352C>T , LRG_507:g.33352C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.834C>T MANE Select | ENSP00000356405.4:p.Pro278= | |
| ENST00000635846.1:c.729+8243C>T | ENSP00000490035.1:n.729+8243C>T | |
| ENST00000643006.1:c.834C>T | ENSP00000496633.1:p.Pro278= | |
| ENST00000643784.1:c.*310C>T | ENSP00000494944.1:n.*310C>T | |
| ENST00000647662.1:n.735C>T | ||
| ENST00000648071.1:c.*810C>T | ENSP00000497513.1:n.*810C>T | |
| ENST00000649606.1:n.847C>T | ||
| ENST00000649895.1:n.1052C>T | ||
| ENST00000650197.1:c.834C>T | ENSP00000496929.1:p.Pro278= | |
| ENST00000367435.3:c.834C>T | ENSP00000356405.3:p.Pro278= | |
| NM_024529.4:c.834C>T , LRG_507t1:c.834C>T | NP_078805.3:p.Pro278= | |
| XM_006711537.2:c.834C>T | XP_006711600.1:p.Pro278= | |
| XM_006711537.4:c.834C>T | XP_006711600.1:p.Pro278= | |
| NM_024529.5:c.834C>T MANE Select | NP_078805.3:p.Pro278= |