Linked Data
ClinVar Variation Id:
2825470
ClinVar RCV Id:
RCV003608013
MyVariant Identifiers:
chr12:g.109994881C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109557076C>T , CM000674.2:g.109557076C>T | GRCh38 |
| NC_000012.11:g.109994881C>T , CM000674.1:g.109994881C>T | GRCh37 |
| NC_000012.10:g.108479264C>T | NCBI36 |
| NG_007096.1:g.21422G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.705G>A MANE Select | ENSP00000445920.1:p.Glu235= | |
| ENST00000537496.5:c.*270G>A | ENSP00000444793.1:n.*270G>A | |
| ENST00000540016.5:c.549G>A | ENSP00000474582.1:p.Glu183= | |
| ENST00000541763.6:c.930G>A | ENSP00000474981.1:n.930G>A | |
| ENST00000544051.5:c.*586G>A | ENSP00000438079.1:n.*586G>A | |
| ENST00000545712.6:c.705G>A | ENSP00000445920.1:p.Glu235= | |
| NM_052845.3:c.705G>A | NP_443077.1:p.Glu235= | |
| NR_038118.1:n.865G>A | ||
| XM_011538266.1:c.*52G>A | XP_011536568.1:n.*52G>A | |
| XM_011538267.1:c.*52G>A | XP_011536569.1:n.*52G>A | |
| XM_011538268.1:c.432G>A | XP_011536570.1:p.Glu144= | |
| XM_011538269.1:c.429G>A | XP_011536571.1:p.Glu143= | |
| XM_011538267.3:c.*52G>A | XP_011536569.1:n.*52G>A | |
| XM_011538268.2:c.432G>A | XP_011536570.1:p.Glu144= | |
| XM_011538269.2:c.429G>A | XP_011536571.1:p.Glu143= | |
| NM_052845.4:c.705G>A MANE Select | NP_443077.1:p.Glu235= | |
| NR_038118.2:n.816G>A |