Linked Data
ClinVar Variation Id:
134029
dbSNP Id:
rs17290699
ExAC:
7:55268897 A / C
gnomAD v2:
7-55268897-A-C
gnomAD v3:
7-55201204-A-C
gnomAD v4:
7-55201204-A-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55201204A>C , CM000669.2:g.55201204A>C | GRCh38 |
| NC_000007.13:g.55268897A>C , CM000669.1:g.55268897A>C | GRCh37 |
| NC_000007.12:g.55236391A>C | NCBI36 |
| NG_007726.3:g.187173A>C , LRG_304:g.187173A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2804A>C | ENSP00000413354.2:p.His935Pro | |
| ENST00000700145.1:c.900-4143A>C | ||
| ENST00000700146.1:n.707A>C | ||
| ENST00000700147.1:n.632A>C | ||
| ENST00000275493.7:c.2963A>C MANE Select | ENSP00000275493.2:p.His988Pro | |
| ENST00000275493.6:c.2963A>C | ENSP00000275493.2:p.His988Pro | |
| ENST00000442591.5:c.*28+28276A>C | ENSP00000410031.1:n.*28+28276A>C | |
| ENST00000454757.6:c.2828A>C | ENSP00000395243.3:p.His943Pro | |
| ENST00000455089.5:c.2828A>C | ENSP00000415559.1:p.His943Pro | |
| NM_005228.3:c.2963A>C , LRG_304t1:c.2963A>C | NP_005219.2:p.His988Pro | |
| NM_001346897.1:c.2828A>C | NP_001333826.1:p.His943Pro | |
| NM_001346898.1:c.2963A>C | NP_001333827.1:p.His988Pro | |
| NM_001346899.1:c.2828A>C | NP_001333828.1:p.His943Pro | |
| NM_001346900.1:c.2804A>C | NP_001333829.1:p.His935Pro | |
| NM_001346941.1:c.2162A>C | NP_001333870.1:p.His721Pro | |
| NM_005228.4:c.2963A>C | NP_005219.2:p.His988Pro | |
| NM_005228.5:c.2963A>C MANE Select | NP_005219.2:p.His988Pro | |
| NM_001346897.2:c.2828A>C | NP_001333826.1:p.His943Pro | |
| NM_001346898.2:c.2963A>C | NP_001333827.1:p.His988Pro | |
| NM_001346900.2:c.2804A>C | NP_001333829.1:p.His935Pro | |
| NM_001346941.2:c.2162A>C | NP_001333870.1:p.His721Pro | |
| NM_001346899.2:c.2828A>C | NP_001333828.1:p.His943Pro |