Linked Data
dbSNP Id:
rs1016895667
gnomAD v2:
17-7557835-G-A
gnomAD v3:
17-7654517-G-A
gnomAD v4:
17-7654517-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7654517G>A , CM000679.2:g.7654517G>A | GRCh38 |
| NC_000017.10:g.7557835G>A , CM000679.1:g.7557835G>A | GRCh37 |
| NC_000017.9:g.7498560G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250111.9:c.553-111G>A MANE Select | ENSP00000250111.4:n.553-111G>A | |
| ENST00000250111.8:c.553-111G>A | ENSP00000250111.4:n.553-111G>A | |
| ENST00000577026.5:c.307-111G>A | ENSP00000459145.1:n.307-111G>A | |
| ENST00000577113.1:c.150-111G>A | ||
| NM_001303263.1:c.307-111G>A | NP_001290192.1:n.307-111G>A | |
| NM_001678.4:c.553-111G>A | NP_001669.3:n.553-111G>A | |
| NM_001678.5:c.553-111G>A MANE Select | NP_001669.3:n.553-111G>A | |
| NM_001303263.2:c.307-111G>A | NP_001290192.1:n.307-111G>A |