Linked Data
ClinVar Variation Id:
1427530
ClinVar RCV Id:
RCV001933756
dbSNP Id:
rs138551064
ExAC:
6:166783707 G / A
gnomAD v2:
6-166783707-G-A
gnomAD v3:
6-166370219-G-A
gnomAD v4:
6-166370219-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.166370219G>A , CM000668.2:g.166370219G>A | GRCh38 |
| NC_000006.11:g.166783707G>A , CM000668.1:g.166783707G>A | GRCh37 |
| NC_000006.10:g.166703697G>A | NCBI36 |
| NG_032888.1:g.17795C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360961.11:c.74C>T MANE Select | ENSP00000354223.6:p.Thr25Met | |
| ENST00000341756.10:c.-57-3325C>T | ENSP00000340784.7:n.-57-3325C>T | |
| ENST00000360961.10:c.74C>T | ENSP00000354223.6:p.Thr25Met | |
| ENST00000366868.5:n.117C>T | ||
| ENST00000475708.1:n.69C>T | ||
| ENST00000487218.5:n.91C>T | ||
| ENST00000621630.1:c.72-750C>T | ENSP00000479789.1:n.72-750C>T | |
| ENST00000621685.4:c.-273-3032C>T | ENSP00000477853.1:n.-273-3032C>T | |
| NM_001270879.1:c.-272C>T | NP_001257808.1:n.-272C>T | |
| NM_016098.3:c.74C>T | NP_057182.1:p.Thr25Met | |
| NR_073093.1:n.211C>T | ||
| NM_016098.4:c.74C>T MANE Select | NP_057182.1:p.Thr25Met | |
| NM_001270879.2:c.-272C>T | NP_001257808.1:n.-272C>T | |
| NM_001376565.1:c.-461-1284C>T | NP_001363494.1:n.-461-1284C>T | |
| NM_001376566.1:c.-54-3328C>T | NP_001363495.1:n.-54-3328C>T | |
| NM_001376567.1:c.-270-3035C>T | NP_001363496.1:n.-270-3035C>T | |
| NM_001376568.1:c.-245-1284C>T | NP_001363497.1:n.-245-1284C>T | |
| NM_001376569.1:c.74C>T | NP_001363498.1:p.Thr25Met | |
| NR_073093.2:n.138C>T | ||
| NR_164828.1:n.136-3328C>T | ||
| NR_164829.1:n.136-3328C>T | ||
| NR_164830.1:n.136-3328C>T | ||
| NR_164831.1:n.136-3344C>T |