Linked Data
ClinVar Variation Id:
1421297
ClinVar RCV Id:
RCV001916852
dbSNP Id:
rs1304558236
gnomAD v4:
11-45805886-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45805886A>C , CM000673.2:g.45805886A>C | GRCh38 |
| NC_000011.9:g.45827437A>C , CM000673.1:g.45827437A>C | GRCh37 |
| NC_000011.8:g.45784013A>C | NCBI36 |
| NG_009875.1:g.6815A>C , LRG_107:g.6815A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526817.2:c.46A>C | ENSP00000432145.2:p.Asn16His | |
| ENST00000314134.4:c.85A>C MANE Select | ENSP00000313318.3:p.Asn29His | |
| ENST00000314134.3:c.85A>C | ENSP00000313318.3:p.Asn29His | |
| ENST00000442528.2:c.46A>C | ENSP00000412408.2:p.Asn16His | |
| ENST00000526817.1:c.46A>C | ENSP00000432145.1:p.Asn16His | |
| ENST00000530471.1:c.46A>C | ENSP00000432669.1:p.Asn16His | |
| NM_001145265.1:c.46A>C | NP_001138737.1:p.Asn16His | |
| NM_001145266.1:c.46A>C | NP_001138738.1:p.Asn16His | |
| NM_018389.4:c.85A>C , LRG_107t1:c.85A>C | NP_060859.4:p.Asn29His | |
| XM_011520203.1:c.85A>C | XP_011518505.1:p.Asn29His | |
| XM_011520203.3:c.85A>C | XP_011518505.1:p.Asn29His | |
| NM_001145265.2:c.46A>C | NP_001138737.1:p.Asn16His | |
| NM_018389.5:c.85A>C MANE Select | NP_060859.4:p.Asn29His |