Linked Data
dbSNP Id:
rs568266722
ExAC:
17:4925829 G / C
gnomAD v2:
17-4925829-G-C
gnomAD v3:
17-5022534-G-C
gnomAD v4:
17-5022534-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5022534G>C , CM000679.2:g.5022534G>C | GRCh38 |
| NC_000017.10:g.4925829G>C , CM000679.1:g.4925829G>C | GRCh37 |
| NC_000017.9:g.4866553G>C | NCBI36 |
| NG_034137.1:g.29587G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320785.10:c.2453G>C MANE Select | ENSP00000320821.5:p.Gly818Ala | |
| ENST00000320785.9:c.2453G>C | ENSP00000320821.5:p.Gly818Ala | |
| NM_006612.5:c.2453G>C | NP_006603.2:p.Gly818Ala | |
| XM_005256424.1:c.2453G>C | XP_005256481.1:p.Gly818Ala | |
| XM_005256424.2:c.2453G>C | XP_005256481.1:p.Gly818Ala | |
| NM_006612.6:c.2453G>C MANE Select | NP_006603.2:p.Gly818Ala |