Linked Data
dbSNP Id:
rs779456276
gnomAD v2:
17-7989422-C-A
gnomAD v3:
17-8086104-C-A
gnomAD v4:
17-8086104-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8086104C>A , CM000679.2:g.8086104C>A | GRCh38 |
| NC_000017.10:g.7989422C>A , CM000679.1:g.7989422C>A | GRCh37 |
| NC_000017.9:g.7930147C>A | NCBI36 |
| NG_007099.1:g.6600G>T | |
| NG_007099.2:g.6613G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.264G>T MANE Select | ENSP00000497784.1:p.Gln88His | |
| ENST00000319144.4:c.264G>T | ENSP00000315167.4:p.Gln88His | |
| NM_001139.2:c.264G>T | NP_001130.1:p.Gln88His | |
| NM_001139.3:c.264G>T MANE Select | NP_001130.1:p.Gln88His |