Linked Data
ClinVar Variation Id:
2417683
dbSNP Id:
rs761948955
ExAC:
11:116661367 G / A
gnomAD v2:
11-116661367-G-A
gnomAD v3:
11-116790651-G-A
gnomAD v4:
11-116790651-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116790651G>A , CM000673.2:g.116790651G>A | GRCh38 |
| NC_000011.9:g.116661367G>A , CM000673.1:g.116661367G>A | GRCh37 |
| NC_000011.8:g.116166577G>A | NCBI36 |
| NG_015894.1:g.6770C>T | |
| NG_015894.2:g.6770C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227665.9:c.578C>T MANE Select | ENSP00000227665.4:p.Pro193Leu | |
| ENST00000433069.2:c.578C>T | ENSP00000399701.2:p.Pro193Leu | |
| ENST00000673688.1:c.662C>T | ENSP00000501141.1:p.Pro221Leu | |
| ENST00000227665.8:c.578C>T | ENSP00000227665.4:p.Pro193Leu | |
| ENST00000542499.5:c.578C>T | ENSP00000445002.1:p.Pro193Leu | |
| NM_001166598.1:c.578C>T | NP_001160070.1:p.Pro193Leu | |
| NM_052968.4:c.578C>T | NP_443200.2:p.Pro193Leu | |
| NM_001166598.2:c.578C>T | NP_001160070.1:p.Pro193Leu | |
| NM_001371904.1:c.578C>T MANE Select | NP_001358833.1:p.Pro193Leu | |
| NM_052968.5:c.578C>T | NP_443200.2:p.Pro193Leu |