Linked Data
dbSNP Id:
rs759606875
ExAC:
17:12896290 C / G
gnomAD v2:
17-12896290-C-G
gnomAD v3:
17-12992973-C-G
gnomAD v4:
17-12992973-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992973C>G , CM000679.2:g.12992973C>G | GRCh38 |
| NC_000017.10:g.12896290C>G , CM000679.1:g.12896290C>G | GRCh37 |
| NC_000017.9:g.12837015C>G | NCBI36 |
| NG_015808.1:g.30092G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2326G>C MANE Select | ENSP00000337445.4:p.Glu776Gln | |
| ENST00000338034.8:c.2326G>C | ENSP00000337445.4:p.Glu776Gln | |
| ENST00000395962.6:c.2269G>C | ENSP00000379291.1:p.Glu757Gln | |
| ENST00000426905.7:c.2206G>C | ENSP00000405223.3:p.Glu736Gln | |
| ENST00000465825.5:n.2213G>C | ||
| ENST00000480891.5:n.2155G>C | ||
| ENST00000484122.5:n.3156G>C | ||
| ENST00000487229.6:n.1872G>C | ||
| ENST00000584650.5:c.1725G>C | ||
| NM_001165962.1:c.2206G>C | NP_001159434.1:p.Glu736Gln | |
| NM_018127.6:c.2326G>C | NP_060597.4:p.Glu776Gln | |
| NM_173717.1:c.2323G>C | NP_776065.1:p.Glu775Gln | |
| XM_024450850.1:c.2485G>C | XP_024306618.1:p.Glu829Gln | |
| XM_024450851.1:c.2407G>C | XP_024306619.1:p.Glu803Gln | |
| XM_024450852.1:c.2404G>C | XP_024306620.1:p.Glu802Gln | |
| XM_024450853.1:c.2401G>C | XP_024306621.1:p.Glu801Gln | |
| XM_024450854.1:c.2365G>C | XP_024306622.1:p.Glu789Gln | |
| XM_024450855.1:c.2284G>C | XP_024306623.1:p.Glu762Gln | |
| XM_024450856.1:c.2203G>C | XP_024306624.1:p.Glu735Gln | |
| XM_024450857.1:c.2203G>C | XP_024306625.1:p.Glu735Gln | |
| XM_024450858.1:c.2122G>C | XP_024306626.1:p.Glu708Gln | |
| XM_024450859.1:c.2119G>C | XP_024306627.1:p.Glu707Gln | |
| XM_024450860.1:c.2044G>C | XP_024306628.1:p.Glu682Gln | |
| XM_024450861.1:c.2044G>C | XP_024306629.1:p.Glu682Gln | |
| XM_024450862.1:c.2041G>C | XP_024306630.1:p.Glu681Gln | |
| NM_018127.7:c.2326G>C MANE Select | NP_060597.4:p.Glu776Gln | |
| NM_001165962.2:c.2206G>C | NP_001159434.1:p.Glu736Gln | |
| NM_173717.2:c.2323G>C | NP_776065.1:p.Glu775Gln |