Linked Data
dbSNP Id:
rs2240017
ExAC:
17:45810919 C / G
gnomAD v2:
17-45810919-C-G
gnomAD v3:
17-47733553-C-G
gnomAD v4:
17-47733553-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47733553C>G , CM000679.2:g.47733553C>G | GRCh38 |
| NC_000017.10:g.45810919C>G , CM000679.1:g.45810919C>G | GRCh37 |
| NC_000017.9:g.43165918C>G | NCBI36 |
| NG_012166.1:g.5310C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000177694.2:c.99C>G MANE Select | ENSP00000177694.1:p.His33Gln | |
| ENST00000177694.1:c.99C>G | ENSP00000177694.1:p.His33Gln | |
| ENST00000581328.1:n.129C>G | ||
| NM_013351.1:c.99C>G | NP_037483.1:p.His33Gln | |
| XM_011524698.1:c.99C>G | XP_011523000.1:p.His33Gln | |
| NM_013351.2:c.99C>G MANE Select | NP_037483.1:p.His33Gln |