Linked Data
dbSNP Id:
rs965330175
gnomAD v2:
11-118183256-G-A
gnomAD v3:
11-118312541-G-A
gnomAD v4:
11-118312541-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312541G>A , CM000673.2:g.118312541G>A | GRCh38 |
| NC_000011.9:g.118183256G>A , CM000673.1:g.118183256G>A | GRCh37 |
| NC_000011.8:g.117688466G>A | NCBI36 |
| NG_007383.1:g.12962G>A , LRG_38:g.12962G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.104-77G>A MANE Select | ENSP00000354566.4:n.104-77G>A | |
| ENST00000361763.8:c.104-77G>A | ENSP00000354566.4:n.104-77G>A | |
| ENST00000526146.5:n.573G>A | ||
| ENST00000528435.5:n.580G>A | ||
| ENST00000528600.1:c.86-77G>A | ENSP00000433975.1:n.86-77G>A | |
| ENST00000529713.5:n.210-77G>A | ||
| ENST00000531913.1:n.398G>A | ||
| NM_000733.3:c.104-77G>A , LRG_38t1:c.104-77G>A | NP_000724.1:n.104-77G>A | |
| NM_000733.4:c.104-77G>A MANE Select | NP_000724.1:n.104-77G>A |