Linked Data
ClinVar Variation Id:
2158087
ClinVar RCV Id:
RCV003069583
dbSNP Id:
rs774226494
gnomAD v2:
11-45832736-C-T
gnomAD v3:
11-45811185-C-T
gnomAD v4:
11-45811185-C-T
MyVariant Identifiers:
chr11:g.45832736C>T (hg19)
chr11:g.45832736_45832739delinsTGAG (hg19)
chr11:g.45811185C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45811185C>T , CM000673.2:g.45811185C>T | GRCh38 |
| NC_000011.9:g.45832736C>T , CM000673.1:g.45832736C>T | GRCh37 |
| NC_000011.8:g.45789312C>T | NCBI36 |
| NG_009875.1:g.12114C>T , LRG_107:g.12114C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526817.2:c.906C>T | ENSP00000432145.2:p.Tyr302= | |
| ENST00000314134.4:c.945C>T MANE Select | ENSP00000313318.3:p.Tyr315= | |
| ENST00000314134.3:c.945C>T | ENSP00000313318.3:p.Tyr315= | |
| ENST00000442528.2:c.906C>T | ENSP00000412408.2:p.Tyr302= | |
| NM_001145265.1:c.906C>T | NP_001138737.1:p.Tyr302= | |
| NM_001145266.1:c.906C>T | NP_001138738.1:p.Tyr302= | |
| NM_018389.4:c.945C>T , LRG_107t1:c.945C>T | NP_060859.4:p.Tyr315= | |
| XM_011520202.1:c.438C>T | XP_011518504.1:p.Tyr146= | |
| XM_011520202.2:c.438C>T | XP_011518504.1:p.Tyr146= | |
| NM_001145265.2:c.906C>T | NP_001138737.1:p.Tyr302= | |
| NM_018389.5:c.945C>T MANE Select | NP_060859.4:p.Tyr315= |