Linked Data
ClinVar Variation Id:
499622
dbSNP Id:
rs748779475
ExAC:
6:42941828 C / A
gnomAD v2:
6-42941828-C-A
gnomAD v3:
6-42974090-C-A
gnomAD v4:
6-42974090-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42974090C>A , CM000668.2:g.42974090C>A | GRCh38 |
| NC_000006.11:g.42941828C>A , CM000668.1:g.42941828C>A | GRCh37 |
| NC_000006.10:g.43049806C>A | NCBI36 |
| NG_008370.1:g.10154G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.1047-4G>T MANE Select | ENSP00000303511.8:n.1047-4G>T | |
| ENST00000244546.4:c.1047-4G>T | ENSP00000244546.4:n.1047-4G>T | |
| ENST00000304611.12:c.1047-4G>T | ENSP00000303511.8:n.1047-4G>T | |
| NM_000287.3:c.1047-4G>T | NP_000278.3:n.1047-4G>T | |
| NM_001316313.1:c.783-4G>T | NP_001303242.1:n.783-4G>T | |
| NR_133009.1:n.1140-4G>T | ||
| XM_011514661.1:c.1046+785G>T | XP_011512963.1:n.1046+785G>T | |
| XR_926246.1:n.1140-4G>T | ||
| XM_011514661.2:c.1046+785G>T | XP_011512963.1:n.1046+785G>T | |
| XR_001743466.2:n.2121-4G>T | ||
| NM_000287.4:c.1047-4G>T MANE Select | NP_000278.3:n.1047-4G>T | |
| NM_001316313.2:c.783-4G>T | NP_001303242.1:n.783-4G>T | |
| NR_133009.2:n.1078-4G>T |