Linked Data
ClinVar Variation Id:
255811
dbSNP Id:
rs6123
ExAC:
3:93593119 T / C
gnomAD v2:
3-93593119-T-C
gnomAD v3:
3-93874275-T-C
gnomAD v4:
3-93874275-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93874275T>C , CM000665.2:g.93874275T>C | GRCh38 |
| NC_000003.11:g.93593119T>C , CM000665.1:g.93593119T>C | GRCh37 |
| NC_000003.10:g.95075809T>C | NCBI36 |
| NG_009813.1:g.104816A>G , LRG_572:g.104816A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.2001A>G | ENSP00000330021.7:p.Pro667= | |
| ENST00000394236.9:c.2001A>G MANE Select | ENSP00000377783.3:p.Pro667= | |
| ENST00000407433.6:c.1956A>G | ENSP00000385794.2:p.Pro652= | |
| ENST00000647936.1:c.*104A>G | ENSP00000496822.1:n.*104A>G | |
| ENST00000648381.1:n.2169A>G | ||
| ENST00000648853.1:c.1959A>G | ENSP00000497262.1:p.Pro653= | |
| ENST00000650591.1:c.2097A>G | ENSP00000497376.1:p.Pro699= | |
| ENST00000394236.7:c.2001A>G | ENSP00000377783.3:p.Pro667= | |
| ENST00000407433.5:c.1608A>G | ENSP00000385794.1:p.Pro536= | |
| NM_000313.3:c.2001A>G , LRG_572t1:c.2001A>G | NP_000304.2:p.Pro667= | |
| NM_001314077.1:c.2097A>G , LRG_572t2:c.2097A>G | NP_001301006.1:p.Pro699= | |
| NM_000313.4:c.2001A>G MANE Select | NP_000304.2:p.Pro667= | |
| NM_001314077.2:c.2097A>G | NP_001301006.1:p.Pro699= |