Linked Data
ClinVar Variation Id:
1244243
ClinVar RCV Id:
RCV001648508
dbSNP Id:
rs774905009
ExAC:
17:56707805 T / G
gnomAD v2:
17-56707805-T-G
gnomAD v4:
17-58630444-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58630444T>G , CM000679.2:g.58630444T>G | GRCh38 |
| NC_000017.10:g.56707805T>G , CM000679.1:g.56707805T>G | GRCh37 |
| NC_000017.9:g.54062804T>G | NCBI36 |
| NG_047169.1:g.66636A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349033.10:c.247A>C MANE Select | ENSP00000268910.8:p.Asn83His | |
| ENST00000240361.12:c.247A>C | ENSP00000240361.8:p.Asn83His | |
| ENST00000349033.9:c.247A>C | ENSP00000268910.8:p.Asn83His | |
| ENST00000389934.7:c.247A>C | ENSP00000374584.3:p.Asn83His | |
| ENST00000582740.1:c.*167A>C | ENSP00000463593.1:n.*167A>C | |
| NM_001201457.1:c.247A>C | NP_001188386.1:p.Asn83His | |
| NM_031272.4:c.247A>C | NP_112562.3:p.Asn83His | |
| NM_198393.3:c.247A>C | NP_938207.2:p.Asn83His | |
| XM_011525028.1:c.247A>C | XP_011523330.1:p.Asn83His | |
| XM_011525029.1:c.247A>C | XP_011523331.1:p.Asn83His | |
| XM_011525030.1:c.247A>C | XP_011523332.1:p.Asn83His | |
| XM_011525031.1:c.247A>C | XP_011523333.1:p.Asn83His | |
| XM_011525032.1:c.247A>C | XP_011523334.1:p.Asn83His | |
| XM_011525029.3:c.247A>C | XP_011523331.1:p.Asn83His | |
| XM_017024861.1:c.-751A>C | XP_016880350.1:n.-751A>C | |
| NM_001201457.2:c.247A>C | NP_001188386.1:p.Asn83His | |
| NM_031272.5:c.247A>C MANE Select | NP_112562.3:p.Asn83His | |
| NM_198393.4:c.247A>C | NP_938207.2:p.Asn83His |