Linked Data
dbSNP Id:
rs771504640
ExAC:
11:113270741 A / C
gnomAD v2:
11-113270741-A-C
gnomAD v4:
11-113400019-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113400019A>C , CM000673.2:g.113400019A>C | GRCh38 |
| NC_000011.9:g.113270741A>C , CM000673.1:g.113270741A>C | GRCh37 |
| NC_000011.8:g.112775951A>C | NCBI36 |
| NG_012976.1:g.17229A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303941.4:c.2050A>C MANE Select | ENSP00000306678.3:p.Asn684His | |
| ENST00000303941.3:c.2050A>C | ENSP00000306678.3:p.Asn684His | |
| NM_178510.1:c.2050A>C | NP_848605.1:p.Asn684His | |
| XM_011542736.1:c.2083A>C | XP_011541038.1:p.Asn695His | |
| XM_011542737.1:c.2053A>C | XP_011541039.1:p.Asn685His | |
| XM_011542738.1:c.1861A>C | XP_011541040.1:p.Asn621His | |
| XM_011542736.2:c.2083A>C | XP_011541038.1:p.Asn695His | |
| XM_011542737.2:c.2053A>C | XP_011541039.1:p.Asn685His | |
| XM_011542738.2:c.1861A>C | XP_011541040.1:p.Asn621His | |
| XM_017017475.1:c.2080A>C | XP_016872964.1:p.Asn694His | |
| NM_178510.2:c.2050A>C MANE Select | NP_848605.1:p.Asn684His |