Linked Data
ClinVar Variation Id:
383754
dbSNP Id:
rs141383988
ExAC:
14:24572401 C / T
gnomAD v2:
14-24572401-C-T
gnomAD v3:
14-24103192-C-T
gnomAD v4:
14-24103192-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24103192C>T , CM000676.2:g.24103192C>T | GRCh38 |
| NC_000014.8:g.24572401C>T , CM000676.1:g.24572401C>T | GRCh37 |
| NC_000014.7:g.23642241C>T | NCBI36 |
| NG_008162.2:g.13919C>T | |
| NG_011697.2:g.16823G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216780.9:c.1405C>T (PCK2) MANE Select | ENSP00000216780.4:p.Arg469Cys | |
| ENST00000561028.6:c.-28+11530G>A (NRL) MANE Select | ENSP00000454062.2:n.-28+11530G>A | |
| ENST00000216780.8:c.1405C>T (PCK2) | ENSP00000216780.4:p.Arg469Cys | |
| ENST00000545054.6:c.1003C>T (PCK2) | ENSP00000441826.2:p.Arg335Cys | |
| ENST00000557969.1:n.249C>T (PCK2) | ||
| ENST00000558096.5:c.970+302C>T (PCK2) | ENSP00000453656.1:n.970+302C>T | |
| ENST00000558280.1:c.-254+11530G>A (NRL) | ENSP00000454180.1:n.-254+11530G>A | |
| ENST00000559171.1:c.203+302C>T (PCK2) | ||
| ENST00000559250.5:c.1441C>T (PCK2) | ENSP00000453444.1:p.Arg481Cys | |
| ENST00000561028.5:c.-28+11530G>A (NRL) | ENSP00000454062.1:n.-28+11530G>A | |
| ENST00000561286.5:c.1003C>T (PCK2) | ENSP00000454011.1:p.Arg335Cys | |
| NM_001291556.1:c.1003C>T (PCK2) | NP_001278485.1:p.Arg335Cys | |
| NM_001308054.1:c.1003C>T (PCK2) | NP_001294983.1:p.Arg335Cys | |
| NM_004563.3:c.1405C>T (PCK2) | NP_004554.3:p.Arg469Cys | |
| XM_005267708.3:c.-254+11530G>A (NRL) | XP_005267765.1:n.-254+11530G>A | |
| XM_005267710.3:c.-28+11530G>A (NRL) | XP_005267767.1:n.-28+11530G>A | |
| XM_006720158.2:c.1405C>T (PCK2) | XP_006720221.1:p.Arg469Cys | |
| NM_001354768.1:c.-28+11530G>A (NRL) | NP_001341697.1:n.-28+11530G>A | |
| NM_001354770.1:c.-28+11530G>A (NRL) | NP_001341699.1:n.-28+11530G>A | |
| NM_006177.4:c.-254+11530G>A (NRL) | NP_006168.1:n.-254+11530G>A | |
| XM_006720158.3:c.1405C>T (PCK2) | XP_006720221.1:p.Arg469Cys | |
| NM_001291556.2:c.1003C>T (PCK2) | NP_001278485.1:p.Arg335Cys | |
| NM_001308054.2:c.1003C>T (PCK2) | NP_001294983.1:p.Arg335Cys | |
| NM_001354768.3:c.-28+11530G>A (NRL) MANE Select | NP_001341697.1:n.-28+11530G>A | |
| NM_001354770.2:c.-28+11530G>A (NRL) | NP_001341699.1:n.-28+11530G>A | |
| NM_004563.4:c.1405C>T (PCK2) MANE Select | NP_004554.3:p.Arg469Cys | |
| NM_006177.5:c.-254+11530G>A (NRL) | NP_006168.1:n.-254+11530G>A |