Linked Data
dbSNP Id:
rs1206707582
gnomAD v2:
12-110006605-C-A
gnomAD v3:
12-109568800-C-A
gnomAD v4:
12-109568800-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109568800C>A , CM000674.2:g.109568800C>A | GRCh38 |
| NC_000012.11:g.110006605C>A , CM000674.1:g.110006605C>A | GRCh37 |
| NC_000012.10:g.108490988C>A | NCBI36 |
| NG_007096.1:g.9698G>T | |
| NG_007702.1:g.106C>A , LRG_156:g.106C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.260G>T MANE Select | ENSP00000445920.1:p.Gly87Val | |
| ENST00000420167.6:c.*89G>T | ENSP00000416136.2:n.*89G>T | |
| ENST00000503497.7:c.260G>T | ENSP00000474881.1:p.Gly87Val | |
| ENST00000536760.1:n.263G>T | ||
| ENST00000537236.2:c.260G>T | ENSP00000483818.1:p.Gly87Val | |
| ENST00000537496.5:c.260G>T | ENSP00000444793.1:p.Gly87Val | |
| ENST00000540016.5:c.135-3624G>T | ENSP00000474582.1:n.135-3624G>T | |
| ENST00000541763.6:c.260G>T | ENSP00000474981.1:p.Gly87Val | |
| ENST00000542390.5:n.287G>T | ||
| ENST00000544051.5:c.*54G>T | ENSP00000438079.1:n.*54G>T | |
| ENST00000545712.6:c.260G>T | ENSP00000445920.1:p.Gly87Val | |
| NM_052845.3:c.260G>T | NP_443077.1:p.Gly87Val | |
| NR_038118.1:n.333G>T | ||
| XM_024448961.1:c.260G>T | XP_024304729.1:p.Gly87Val | |
| NM_052845.4:c.260G>T MANE Select | NP_443077.1:p.Gly87Val | |
| NR_038118.2:n.284G>T |