Identifiers and link-outs to other resources
dbSNP Id:
rs1060822
ExAC:
17:26092631 A / G
gnomAD:
17:26092631 A / G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27765605A>G , CM000679.2:g.27765605A>G | GRCh38 |
| NC_000017.10:g.26092631A>G , CM000679.1:g.26092631A>G | GRCh37 |
| NC_000017.9:g.23116758A>G | NCBI36 |
| NG_011470.1:g.39925T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_000625.4:c.2358T>C VV MANE Preferred | NP_000616.3:p.Gly786= | |
| XM_011524859.1:c.2358T>C | XP_011523161.1:p.Gly786= | |
| XM_011524860.1:c.2355T>C | XP_011523162.1:p.Gly785= | |
| XM_011524861.1:c.2356+2T>C | XP_011523163.1:p.= | |
| XM_011524862.1:c.1692T>C | XP_011523164.1:p.Gly564= | |
| ENST00000313735.10:c.2358T>C | ENSP00000327251.6:p.Gly786= | |
| ENST00000621962.1:n.2241T>C | ENSP00000482291.1:p.Gly747= |