Linked Data
dbSNP Id:
rs1006904630
gnomAD v2:
3-93619553-C-A
gnomAD v3:
3-93900709-C-A
gnomAD v4:
3-93900709-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93900709C>A , CM000665.2:g.93900709C>A | GRCh38 |
| NC_000003.11:g.93619553C>A , CM000665.1:g.93619553C>A | GRCh37 |
| NC_000003.10:g.95102243C>A | NCBI36 |
| NG_009813.1:g.78382G>T , LRG_572:g.78382G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.727+95G>T | ENSP00000330021.7:n.727+95G>T | |
| ENST00000394236.9:c.727+95G>T MANE Select | ENSP00000377783.3:n.727+95G>T | |
| ENST00000407433.6:c.682+95G>T | ENSP00000385794.2:n.682+95G>T | |
| ENST00000647936.1:c.727+95G>T | ENSP00000496822.1:n.727+95G>T | |
| ENST00000648381.1:n.895+95G>T | ||
| ENST00000648853.1:c.685+95G>T | ENSP00000497262.1:n.685+95G>T | |
| ENST00000649103.1:c.826+95G>T | ENSP00000497962.1:n.826+95G>T | |
| ENST00000650591.1:c.823+95G>T | ENSP00000497376.1:n.823+95G>T | |
| ENST00000394236.7:c.727+95G>T | ENSP00000377783.3:n.727+95G>T | |
| ENST00000407433.5:c.334+95G>T | ENSP00000385794.1:n.334+95G>T | |
| NM_000313.3:c.727+95G>T , LRG_572t1:c.727+95G>T | NP_000304.2:n.727+95G>T | |
| NM_001314077.1:c.823+95G>T , LRG_572t2:c.823+95G>T | NP_001301006.1:n.823+95G>T | |
| NM_000313.4:c.727+95G>T MANE Select | NP_000304.2:n.727+95G>T | |
| NM_001314077.2:c.823+95G>T | NP_001301006.1:n.823+95G>T |