Linked Data
dbSNP Id:
rs1316979956
gnomAD v2:
17-7521994-C-A
gnomAD v3:
17-7618676-C-A
gnomAD v4:
17-7618676-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7618676C>A , CM000679.2:g.7618676C>A | GRCh38 |
| NC_000017.10:g.7521994C>A , CM000679.1:g.7521994C>A | GRCh37 |
| NC_000017.9:g.7462719C>A | NCBI36 |
| NG_011981.2:g.9613C>A | |
| NG_028105.1:g.1222G>T , LRG_285:g.1222G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570547.5:c.-62+4565C>A | ENSP00000458875.1:n.-62+4565C>A | |
| ENST00000572182.5:c.-62+4565C>A | ENSP00000458816.1:n.-62+4565C>A | |
| ENST00000572262.5:c.-62+4565C>A | ENSP00000459999.1:n.-62+4565C>A | |
| ENST00000574539.5:c.-62+4565C>A | ENSP00000458181.1:n.-62+4565C>A | |
| ENST00000575314.5:c.-62+4565C>A | ENSP00000458559.1:n.-62+4565C>A | |
| ENST00000576478.5:c.-62+4565C>A | ENSP00000461133.1:n.-62+4565C>A | |
| ENST00000576728.5:c.-62+4565C>A | ENSP00000459620.1:n.-62+4565C>A | |
| NM_001289114.1:c.-62+4565C>A | NP_001276043.1:n.-62+4565C>A | |
| NM_001289114.2:c.-62+4565C>A | NP_001276043.1:n.-62+4565C>A |