Linked Data
ClinVar Variation Id:
538051
dbSNP Id:
rs56143179
ExAC:
11:117869503 C / T
gnomAD v2:
11-117869503-C-T
gnomAD v3:
11-117998788-C-T
gnomAD v4:
11-117998788-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117998788C>T , CM000673.2:g.117998788C>T | GRCh38 |
| NC_000011.9:g.117869503C>T , CM000673.1:g.117869503C>T | GRCh37 |
| NC_000011.8:g.117374713C>T | NCBI36 |
| NG_016275.1:g.17398C>T , LRG_151:g.17398C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525467.2:n.2671C>T | ||
| ENST00000696732.1:n.2733C>T | ||
| ENST00000227752.8:c.884C>T MANE Select | ENSP00000227752.4:p.Pro295Leu | |
| ENST00000529924.6:n.2462C>T | ||
| ENST00000227752.7:c.884C>T | ENSP00000227752.3:p.Pro295Leu | |
| ENST00000525467.1:n.826C>T | ||
| ENST00000526544.5:c.*420C>T | ENSP00000435317.1:n.*420C>T | |
| ENST00000529924.5:n.2462C>T | ||
| ENST00000530178.1:n.750C>T | ||
| ENST00000530761.5:n.1261C>T | ||
| ENST00000533700.5:n.1091C>T | ||
| ENST00000534574.5:c.*824C>T | ENSP00000436328.1:n.*824C>T | |
| NM_001558.3:c.884C>T , LRG_151t1:c.884C>T | NP_001549.2:p.Pro295Leu | |
| NR_026691.1:n.1091C>T | ||
| XM_024448493.1:c.437C>T | XP_024304261.1:p.Pro146Leu | |
| NM_001558.4:c.884C>T MANE Select | NP_001549.2:p.Pro295Leu | |
| NR_026691.2:n.1088C>T |