Linked Data
dbSNP Id:
rs201405287
gnomAD v2:
12-32975523-G-C
gnomAD v3:
12-32822589-G-C
gnomAD v4:
12-32822589-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32822589G>C , CM000674.2:g.32822589G>C | GRCh38 |
| NC_000012.11:g.32975523G>C , CM000674.1:g.32975523G>C | GRCh37 |
| NC_000012.10:g.32866790G>C | NCBI36 |
| NG_009000.1:g.79258C>G , LRG_398:g.79258C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.229C>G | ||
| ENST00000700559.2:c.1717C>G | ENSP00000515065.2:p.Gln573Glu | |
| ENST00000700563.2:c.1717C>G | ENSP00000515066.2:p.Gln573Glu | |
| ENST00000546498.2:n.404C>G | ||
| ENST00000700555.1:c.157C>G | ENSP00000515062.1:p.Gln53Glu | |
| ENST00000700556.1:c.188C>G | ||
| ENST00000700559.1:c.932C>G | ||
| ENST00000700560.1:n.932C>G | ||
| ENST00000700561.1:n.1058C>G | ||
| ENST00000700563.1:c.1671C>G | ||
| ENST00000700564.1:n.1721C>G | ||
| ENST00000070846.11:c.1849C>G | ENSP00000070846.6:p.Gln617Glu | |
| ENST00000340811.9:c.1717C>G MANE Select | ENSP00000342800.5:p.Gln573Glu | |
| ENST00000070846.10:c.1849C>G | ENSP00000070846.6:p.Gln617Glu | |
| ENST00000340811.8:c.1717C>G | ENSP00000342800.4:p.Gln573Glu | |
| ENST00000546498.1:n.404C>G | ||
| ENST00000552612.5:n.138C>G | ||
| ENST00000613243.1:c.1849C>G | ENSP00000478295.1:p.Gln617Glu | |
| NM_001005242.2:c.1717C>G | NP_001005242.2:p.Gln573Glu | |
| NM_004572.3:c.1849C>G , LRG_398t1:c.1849C>G | NP_004563.2:p.Gln617Glu | |
| NM_001005242.3:c.1717C>G MANE Select | NP_001005242.2:p.Gln573Glu | |
| NM_004572.4:c.1849C>G | NP_004563.2:p.Gln617Glu |