Linked Data
dbSNP Id:
rs371091547
ExAC:
17:7128330 C / G
gnomAD v2:
17-7128330-C-G
gnomAD v3:
17-7225011-C-G
gnomAD v4:
17-7225011-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7225011C>G , CM000679.2:g.7225011C>G | GRCh38 |
| NC_000017.10:g.7128330C>G , CM000679.1:g.7128330C>G | GRCh37 |
| NC_000017.9:g.7069054C>G | NCBI36 |
| NG_007975.1:g.10178C>G | |
| NG_008391.2:g.40G>C | |
| NG_033038.1:g.14534G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1882C>G MANE Select | ENSP00000349297.5:p.Gln628Glu | |
| ENST00000322910.9:c.*1837C>G | ENSP00000325395.5:n.*1837C>G | |
| ENST00000350303.9:c.1816C>G | ENSP00000344152.5:p.Gln606Glu | |
| ENST00000356839.9:c.1882C>G | ENSP00000349297.5:p.Gln628Glu | |
| ENST00000542255.6:c.761C>G | ||
| ENST00000543245.6:c.1951C>G | ENSP00000438689.2:p.Gln651Glu | |
| ENST00000578033.1:n.307C>G | ||
| ENST00000578319.5:n.463C>G | ||
| ENST00000578711.1:n.1507C>G | ||
| ENST00000578809.5:n.454C>G | ||
| ENST00000579425.5:n.998C>G | ||
| ENST00000583848.5:c.248C>G | ENSP00000466487.1:n.248C>G | |
| ENST00000583850.5:n.653C>G | ||
| ENST00000583858.5:c.813C>G | ||
| NM_000018.3:c.1882C>G | NP_000009.1:p.Gln628Glu | |
| NM_001033859.2:c.1816C>G | NP_001029031.1:p.Gln606Glu | |
| NM_001270447.1:c.1951C>G | NP_001257376.1:p.Gln651Glu | |
| NM_001270448.1:c.1654C>G | NP_001257377.1:p.Gln552Glu | |
| XM_006721516.2:c.1903C>G | XP_006721579.2:p.Gln635Glu | |
| XM_011523829.1:c.1801C>G | XP_011522131.1:p.Gln601Glu | |
| XM_011523830.1:c.1780C>G | XP_011522132.1:p.Gln594Glu | |
| XR_934021.1:n.1985C>G | ||
| XR_934022.1:n.1891C>G | ||
| XR_934023.1:n.1912C>G | ||
| XM_006721516.3:c.1903C>G | XP_006721579.2:p.Gln635Glu | |
| XM_011523829.2:c.1801C>G | XP_011522131.1:p.Gln601Glu | |
| XM_011523830.2:c.1780C>G | XP_011522132.1:p.Gln594Glu | |
| XM_024450741.1:c.1870C>G | XP_024306509.1:p.Gln624Glu | |
| XR_934021.2:n.1937C>G | ||
| XR_934022.2:n.1843C>G | ||
| XR_934023.2:n.1864C>G | ||
| NM_000018.4:c.1882C>G MANE Select | NP_000009.1:p.Gln628Glu | |
| NM_001033859.3:c.1816C>G | NP_001029031.1:p.Gln606Glu | |
| NM_001270447.2:c.1951C>G | NP_001257376.1:p.Gln651Glu | |
| NM_001270448.2:c.1654C>G | NP_001257377.1:p.Gln552Glu |