Linked Data
dbSNP Id:
rs758693569
ExAC:
3:93615530 A / C
gnomAD v2:
3-93615530-A-C
gnomAD v4:
3-93896686-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93896686A>C , CM000665.2:g.93896686A>C | GRCh38 |
| NC_000003.11:g.93615530A>C , CM000665.1:g.93615530A>C | GRCh37 |
| NC_000003.10:g.95098220A>C | NCBI36 |
| NG_009813.1:g.82405T>G , LRG_572:g.82405T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348974.5:c.855T>G | ENSP00000330021.7:p.Val285= | |
| ENST00000394236.9:c.855T>G MANE Select | ENSP00000377783.3:p.Val285= | |
| ENST00000407433.6:c.810T>G | ENSP00000385794.2:p.Val270= | |
| ENST00000647936.1:c.855T>G | ENSP00000496822.1:p.Val285= | |
| ENST00000648381.1:n.1023T>G | ||
| ENST00000648853.1:c.813T>G | ENSP00000497262.1:p.Val271= | |
| ENST00000649103.1:c.954T>G | ENSP00000497962.1:n.954T>G | |
| ENST00000650591.1:c.951T>G | ENSP00000497376.1:p.Val317= | |
| ENST00000394236.7:c.855T>G | ENSP00000377783.3:p.Val285= | |
| ENST00000407433.5:c.462T>G | ENSP00000385794.1:p.Val154= | |
| NM_000313.3:c.855T>G , LRG_572t1:c.855T>G | NP_000304.2:p.Val285= | |
| NM_001314077.1:c.951T>G , LRG_572t2:c.951T>G | NP_001301006.1:p.Val317= | |
| NM_000313.4:c.855T>G MANE Select | NP_000304.2:p.Val285= | |
| NM_001314077.2:c.951T>G | NP_001301006.1:p.Val317= |