Linked Data
dbSNP Id:
rs749022421
ExAC:
11:46747712 T / C
gnomAD v2:
11-46747712-T-C
gnomAD v4:
11-46726162-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46726162T>C , CM000673.2:g.46726162T>C | GRCh38 |
| NC_000011.9:g.46747712T>C , CM000673.1:g.46747712T>C | GRCh37 |
| NC_000011.8:g.46704288T>C | NCBI36 |
| NG_008953.1:g.11970T>C , LRG_551:g.11970T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.863T>C MANE Select | ENSP00000308541.5:p.Leu288Pro | |
| ENST00000311907.9:c.863T>C | ENSP00000308541.5:p.Leu288Pro | |
| ENST00000442468.1:c.833T>C | ENSP00000387413.1:p.Leu278Pro | |
| ENST00000530231.5:c.863T>C | ENSP00000433907.1:p.Leu288Pro | |
| NM_000506.3:c.863T>C | NP_000497.1:p.Leu288Pro | |
| NM_000506.4:c.863T>C , LRG_551t1:c.863T>C | NP_000497.1:p.Leu288Pro | |
| NM_001311257.1:c.815T>C | NP_001298186.1:p.Leu272Pro | |
| XR_428840.2:n.907T>C | ||
| XR_428840.4:n.898T>C | ||
| NM_000506.5:c.863T>C MANE Select | NP_000497.1:p.Leu288Pro | |
| NM_001311257.2:c.815T>C | NP_001298186.1:p.Leu272Pro |