Linked Data
ClinVar Variation Id:
2051233
ClinVar RCV Id:
RCV002922387
dbSNP Id:
rs749808953
ExAC:
14:24568374 A / C
gnomAD v2:
14-24568374-A-C
gnomAD v3:
14-24099165-A-C
gnomAD v4:
14-24099165-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24099165A>C , CM000676.2:g.24099165A>C | GRCh38 |
| NC_000014.8:g.24568374A>C , CM000676.1:g.24568374A>C | GRCh37 |
| NC_000014.7:g.23638214A>C | NCBI36 |
| NG_008162.2:g.9892A>C | |
| NG_011697.2:g.20850T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216780.9:c.781A>C (PCK2) MANE Select | ENSP00000216780.4:p.Lys261Gln | |
| ENST00000561028.6:c.-28+15557T>G (NRL) MANE Select | ENSP00000454062.2:n.-28+15557T>G | |
| ENST00000216780.8:c.781A>C (PCK2) | ENSP00000216780.4:p.Lys261Gln | |
| ENST00000396973.8:c.781A>C (PCK2) | ENSP00000380171.4:p.Lys261Gln | |
| ENST00000545054.6:c.379A>C (PCK2) | ENSP00000441826.2:p.Lys127Gln | |
| ENST00000558096.5:c.379A>C (PCK2) | ENSP00000453656.1:p.Lys127Gln | |
| ENST00000558280.1:c.-253-14420T>G (NRL) | ENSP00000454180.1:n.-253-14420T>G | |
| ENST00000558674.5:n.1372A>C (PCK2) | ||
| ENST00000559250.5:c.817A>C (PCK2) | ENSP00000453444.1:p.Lys273Gln | |
| ENST00000559503.1:c.284A>C (PCK2) | ||
| ENST00000561028.5:c.-28+15557T>G (NRL) | ENSP00000454062.1:n.-28+15557T>G | |
| ENST00000561050.5:n.1171-393A>C (PCK2) | ||
| ENST00000561286.5:c.379A>C (PCK2) | ENSP00000454011.1:p.Lys127Gln | |
| NM_001018073.2:c.781A>C (PCK2) | NP_001018083.2:p.Lys261Gln | |
| NM_001291556.1:c.379A>C (PCK2) | NP_001278485.1:p.Lys127Gln | |
| NM_001308054.1:c.379A>C (PCK2) | NP_001294983.1:p.Lys127Gln | |
| NM_004563.3:c.781A>C (PCK2) | NP_004554.3:p.Lys261Gln | |
| XM_005267708.3:c.-253-14420T>G (NRL) | XP_005267765.1:n.-253-14420T>G | |
| XM_005267710.3:c.-28+15557T>G (NRL) | XP_005267767.1:n.-28+15557T>G | |
| XM_006720158.2:c.781A>C (PCK2) | XP_006720221.1:p.Lys261Gln | |
| NM_001354768.1:c.-28+15557T>G (NRL) | NP_001341697.1:n.-28+15557T>G | |
| NM_001354770.1:c.-28+15557T>G (NRL) | NP_001341699.1:n.-28+15557T>G | |
| NM_006177.4:c.-253-14420T>G (NRL) | NP_006168.1:n.-253-14420T>G | |
| XM_006720158.3:c.781A>C (PCK2) | XP_006720221.1:p.Lys261Gln | |
| NM_001018073.3:c.781A>C (PCK2) | NP_001018083.2:p.Lys261Gln | |
| NM_001291556.2:c.379A>C (PCK2) | NP_001278485.1:p.Lys127Gln | |
| NM_001308054.2:c.379A>C (PCK2) | NP_001294983.1:p.Lys127Gln | |
| NM_001354768.3:c.-28+15557T>G (NRL) MANE Select | NP_001341697.1:n.-28+15557T>G | |
| NM_001354770.2:c.-28+15557T>G (NRL) | NP_001341699.1:n.-28+15557T>G | |
| NM_004563.4:c.781A>C (PCK2) MANE Select | NP_004554.3:p.Lys261Gln | |
| NM_006177.5:c.-253-14420T>G (NRL) | NP_006168.1:n.-253-14420T>G |