Linked Data
dbSNP Id:
rs758194691
ExAC:
3:93646068 A / C
gnomAD v2:
3-93646068-A-C
gnomAD v3:
3-93927224-A-C
gnomAD v4:
3-93927224-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93927224A>C , CM000665.2:g.93927224A>C | GRCh38 |
| NC_000003.11:g.93646068A>C , CM000665.1:g.93646068A>C | GRCh37 |
| NC_000003.10:g.95128758A>C | NCBI36 |
| NG_009813.1:g.51867T>G , LRG_572:g.51867T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.234+26T>G | ENSP00000330021.7:n.234+26T>G | |
| ENST00000394236.9:c.234+26T>G MANE Select | ENSP00000377783.3:n.234+26T>G | |
| ENST00000407433.6:c.234+26T>G | ENSP00000385794.2:n.234+26T>G | |
| ENST00000472684.2:c.-160+26T>G | ENSP00000419616.2:n.-160+26T>G | |
| ENST00000647936.1:c.234+26T>G | ENSP00000496822.1:n.234+26T>G | |
| ENST00000648381.1:n.402+26T>G | ||
| ENST00000648853.1:c.192+26T>G | ENSP00000497262.1:n.192+26T>G | |
| ENST00000649103.1:c.213+26T>G | ENSP00000497962.1:n.213+26T>G | |
| ENST00000650591.1:c.330+26T>G | ENSP00000497376.1:n.330+26T>G | |
| ENST00000348974.4:c.330+26T>G | ENSP00000330021.6:n.330+26T>G | |
| ENST00000394236.7:c.234+26T>G | ENSP00000377783.3:n.234+26T>G | |
| ENST00000407433.5:c.-160+26T>G | ENSP00000385794.1:n.-160+26T>G | |
| ENST00000472684.1:c.-160+26T>G | ENSP00000419616.1:n.-160+26T>G | |
| NM_000313.3:c.234+26T>G , LRG_572t1:c.234+26T>G | NP_000304.2:n.234+26T>G | |
| NM_001314077.1:c.330+26T>G , LRG_572t2:c.330+26T>G | NP_001301006.1:n.330+26T>G | |
| NM_000313.4:c.234+26T>G MANE Select | NP_000304.2:n.234+26T>G | |
| NM_001314077.2:c.330+26T>G | NP_001301006.1:n.330+26T>G |