Linked Data
dbSNP Id:
rs8068149
gnomAD v2:
17-26088855-G-A
gnomAD v3:
17-27761829-G-A
gnomAD v4:
17-27761829-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27761829G>A , CM000679.2:g.27761829G>A | GRCh38 |
| NC_000017.10:g.26088855G>A , CM000679.1:g.26088855G>A | GRCh37 |
| NC_000017.9:g.23112982G>A | NCBI36 |
| NG_011470.1:g.43701C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697337.1:c.*3465-598C>T | ENSP00000513259.1:n.*3465-598C>T | |
| ENST00000697338.1:c.2649-598C>T | ENSP00000513260.1:n.2649-598C>T | |
| ENST00000697339.1:c.1763-598C>T | ENSP00000513261.1:n.1763-598C>T | |
| ENST00000697340.1:c.*1514-598C>T | ENSP00000513262.1:n.*1514-598C>T | |
| ENST00000313735.11:c.2801-598C>T MANE Select | ENSP00000327251.6:n.2801-598C>T | |
| ENST00000646938.1:c.2798-598C>T | ENSP00000494870.1:n.2798-598C>T | |
| ENST00000313735.10:c.2801-598C>T | ENSP00000327251.6:n.2801-598C>T | |
| ENST00000621962.1:c.2684-598C>T | ENSP00000482291.1:n.2684-598C>T | |
| NM_000625.4:c.2801-598C>T MANE Select | NP_000616.3:n.2801-598C>T | |
| XM_011524859.1:c.2801-598C>T | XP_011523161.1:n.2801-598C>T | |
| XM_011524860.1:c.2798-598C>T | XP_011523162.1:n.2798-598C>T | |
| XM_011524861.1:c.2729-598C>T | XP_011523163.1:n.2729-598C>T | |
| XM_011524862.1:c.2135-598C>T | XP_011523164.1:n.2135-598C>T |