Linked Data
dbSNP Id:
rs1026057929
gnomAD v2:
17-80685564-G-A
gnomAD v3:
17-82727688-G-A
gnomAD v4:
17-82727688-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82727688G>A , CM000679.2:g.82727688G>A | GRCh38 |
| NC_000017.10:g.80685564G>A , CM000679.1:g.80685564G>A | GRCh37 |
| NC_000017.9:g.78278853G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269373.11:c.*517G>A MANE Select | ENSP00000269373.6:n.*517G>A | |
| ENST00000269373.10:c.*517G>A | ENSP00000269373.6:n.*517G>A | |
| ENST00000571594.1:c.53+521G>A | ENSP00000459751.1:n.53+521G>A | |
| NM_024619.3:c.*517G>A | NP_078895.2:n.*517G>A | |
| NR_046408.1:n.1625G>A | ||
| XM_024450948.1:c.*517G>A | XP_024306716.1:n.*517G>A | |
| NM_024619.4:c.*517G>A MANE Select | NP_078895.2:n.*517G>A | |
| NR_046408.2:n.1625G>A |