Linked Data
ClinVar Variation Id:
726205
dbSNP Id:
rs750709036
ExAC:
12:102147161 C / T
gnomAD v2:
12-102147161-C-T
gnomAD v3:
12-101753383-C-T
gnomAD v4:
12-101753383-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101753383C>T , CM000674.2:g.101753383C>T | GRCh38 |
| NC_000012.11:g.102147161C>T , CM000674.1:g.102147161C>T | GRCh37 |
| NC_000012.10:g.100671292C>T | NCBI36 |
| NG_021243.1:g.82485G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3591G>A MANE Select | ENSP00000299314.7:p.Glu1197= | |
| ENST00000299314.11:c.3591G>A | ENSP00000299314.7:p.Glu1197= | |
| ENST00000549738.5:c.489G>A | ENSP00000450161.1:n.489G>A | |
| NM_024312.4:c.3591G>A | NP_077288.2:p.Glu1197= | |
| XM_011538731.1:c.3510G>A | XP_011537033.1:p.Glu1170= | |
| XM_011538731.2:c.3510G>A | XP_011537033.1:p.Glu1170= | |
| XM_017019961.1:c.3375G>A | XP_016875450.1:p.Glu1125= | |
| XM_017019962.2:c.2364G>A | XP_016875451.1:p.Glu788= | |
| NM_024312.5:c.3591G>A MANE Select | NP_077288.2:p.Glu1197= |