Linked Data
dbSNP Id:
rs755006914
ExAC:
12:110006576 C / T
gnomAD v2:
12-110006576-C-T
gnomAD v4:
12-109568771-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109568771C>T , CM000674.2:g.109568771C>T | GRCh38 |
| NC_000012.11:g.110006576C>T , CM000674.1:g.110006576C>T | GRCh37 |
| NC_000012.10:g.108490959C>T | NCBI36 |
| NG_007096.1:g.9727G>A | |
| NG_007702.1:g.77C>T , LRG_156:g.77C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.289G>A MANE Select | ENSP00000445920.1:p.Gly97Arg | |
| ENST00000420167.6:c.*118G>A | ENSP00000416136.2:n.*118G>A | |
| ENST00000503497.7:c.289G>A | ENSP00000474881.1:p.Gly97Arg | |
| ENST00000536760.1:n.292G>A | ||
| ENST00000537236.2:c.289G>A | ENSP00000483818.1:p.Gly97Arg | |
| ENST00000537496.5:c.289G>A | ENSP00000444793.1:p.Gly97Arg | |
| ENST00000540016.5:c.135-3595G>A | ENSP00000474582.1:n.135-3595G>A | |
| ENST00000541763.6:c.289G>A | ENSP00000474981.1:p.Gly97Arg | |
| ENST00000542390.5:n.316G>A | ||
| ENST00000544051.5:c.*83G>A | ENSP00000438079.1:n.*83G>A | |
| ENST00000545712.6:c.289G>A | ENSP00000445920.1:p.Gly97Arg | |
| NM_052845.3:c.289G>A | NP_443077.1:p.Gly97Arg | |
| NR_038118.1:n.362G>A | ||
| XM_024448961.1:c.289G>A | XP_024304729.1:p.Gly97Arg | |
| NM_052845.4:c.289G>A MANE Select | NP_443077.1:p.Gly97Arg | |
| NR_038118.2:n.313G>A |