Linked Data
ClinVar Variation Id:
559130
dbSNP Id:
rs10132601
ExAC:
14:24566261 G / A
gnomAD v2:
14-24566261-G-A
gnomAD v3:
14-24097052-G-A
gnomAD v4:
14-24097052-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24097052G>A , CM000676.2:g.24097052G>A | GRCh38 |
| NC_000014.8:g.24566261G>A , CM000676.1:g.24566261G>A | GRCh37 |
| NC_000014.7:g.23636101G>A | NCBI36 |
| NG_008162.2:g.7779G>A | |
| NG_011697.2:g.22963C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216780.9:c.190G>A (PCK2) MANE Select | ENSP00000216780.4:p.Asp64Asn | |
| ENST00000561028.6:c.-27-14177C>T (NRL) MANE Select | ENSP00000454062.2:n.-27-14177C>T | |
| ENST00000216780.8:c.190G>A (PCK2) | ENSP00000216780.4:p.Asp64Asn | |
| ENST00000396973.8:c.190G>A (PCK2) | ENSP00000380171.4:p.Asp64Asn | |
| ENST00000545054.6:c.-213G>A (PCK2) | ENSP00000441826.2:n.-213G>A | |
| ENST00000558096.5:c.-213G>A (PCK2) | ENSP00000453656.1:n.-213G>A | |
| ENST00000558280.1:c.-253-12307C>T (NRL) | ENSP00000454180.1:n.-253-12307C>T | |
| ENST00000558674.5:n.694G>A (PCK2) | ||
| ENST00000559250.5:c.226G>A (PCK2) | ENSP00000453444.1:p.Asp76Asn | |
| ENST00000559584.5:c.*317G>A (PCK2) | ENSP00000452748.1:n.*317G>A | |
| ENST00000559837.5:c.-213G>A (PCK2) | ENSP00000453751.1:n.-213G>A | |
| ENST00000560106.5:c.*141G>A (PCK2) | ENSP00000454020.1:n.*141G>A | |
| ENST00000560657.1:n.548G>A (PCK2) | ||
| ENST00000560736.5:c.-213G>A (PCK2) | ENSP00000453998.1:n.-213G>A | |
| ENST00000561028.5:c.-27-14177C>T (NRL) | ENSP00000454062.1:n.-27-14177C>T | |
| ENST00000561050.5:n.696G>A (PCK2) | ||
| ENST00000561286.5:c.-127-1151G>A (PCK2) | ENSP00000454011.1:n.-127-1151G>A | |
| NM_001018073.2:c.190G>A (PCK2) | NP_001018083.2:p.Asp64Asn | |
| NM_001291556.1:c.-127-1151G>A (PCK2) | NP_001278485.1:n.-127-1151G>A | |
| NM_001308054.1:c.-213G>A (PCK2) | NP_001294983.1:n.-213G>A | |
| NM_004563.3:c.190G>A (PCK2) | NP_004554.3:p.Asp64Asn | |
| XM_005267708.3:c.-253-12307C>T (NRL) | XP_005267765.1:n.-253-12307C>T | |
| XM_005267710.3:c.-27-14177C>T (NRL) | XP_005267767.1:n.-27-14177C>T | |
| XM_006720158.2:c.190G>A (PCK2) | XP_006720221.1:p.Asp64Asn | |
| NM_001354768.1:c.-27-14177C>T (NRL) | NP_001341697.1:n.-27-14177C>T | |
| NM_001354770.1:c.-27-14177C>T (NRL) | NP_001341699.1:n.-27-14177C>T | |
| NM_006177.4:c.-253-12307C>T (NRL) | NP_006168.1:n.-253-12307C>T | |
| XM_006720158.3:c.190G>A (PCK2) | XP_006720221.1:p.Asp64Asn | |
| NM_001018073.3:c.190G>A (PCK2) | NP_001018083.2:p.Asp64Asn | |
| NM_001291556.2:c.-127-1151G>A (PCK2) | NP_001278485.1:n.-127-1151G>A | |
| NM_001308054.2:c.-213G>A (PCK2) | NP_001294983.1:n.-213G>A | |
| NM_001354768.3:c.-27-14177C>T (NRL) MANE Select | NP_001341697.1:n.-27-14177C>T | |
| NM_001354770.2:c.-27-14177C>T (NRL) | NP_001341699.1:n.-27-14177C>T | |
| NM_004563.4:c.190G>A (PCK2) MANE Select | NP_004554.3:p.Asp64Asn | |
| NM_006177.5:c.-253-12307C>T (NRL) | NP_006168.1:n.-253-12307C>T |