Linked Data
dbSNP Id:
rs778289879
ExAC:
17:7127849 A / G
gnomAD v2:
17-7127849-A-G
gnomAD v4:
17-7224530-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224530A>G , CM000679.2:g.7224530A>G | GRCh38 |
| NC_000017.10:g.7127849A>G , CM000679.1:g.7127849A>G | GRCh37 |
| NC_000017.9:g.7068573A>G | NCBI36 |
| NG_007975.1:g.9697A>G | |
| NG_008391.2:g.521T>C | |
| NG_033038.1:g.15015T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1656A>G MANE Select | ENSP00000349297.5:p.Ile552Met | |
| ENST00000322910.9:c.*1611A>G | ENSP00000325395.5:n.*1611A>G | |
| ENST00000350303.9:c.1590A>G | ENSP00000344152.5:p.Ile530Met | |
| ENST00000356839.9:c.1656A>G | ENSP00000349297.5:p.Ile552Met | |
| ENST00000542255.6:c.514A>G | ||
| ENST00000543245.6:c.1725A>G | ENSP00000438689.2:p.Ile575Met | |
| ENST00000578319.5:n.237A>G | ||
| ENST00000578711.1:n.1026A>G | ||
| ENST00000578809.5:n.228A>G | ||
| ENST00000579391.1:n.260A>G | ||
| ENST00000579425.5:n.772A>G | ||
| ENST00000579546.1:c.391A>G | ||
| ENST00000582450.1:n.164A>G | ||
| ENST00000583074.5:n.277A>G | ||
| ENST00000583848.5:c.42A>G | ENSP00000466487.1:p.Ile14Met | |
| ENST00000583850.5:n.427A>G | ||
| ENST00000583858.5:c.587A>G | ||
| ENST00000585203.6:n.847A>G | ||
| NM_000018.3:c.1656A>G | NP_000009.1:p.Ile552Met | |
| NM_001033859.2:c.1590A>G | NP_001029031.1:p.Ile530Met | |
| NM_001270447.1:c.1725A>G | NP_001257376.1:p.Ile575Met | |
| NM_001270448.1:c.1428A>G | NP_001257377.1:p.Ile476Met | |
| XM_006721516.2:c.1656A>G | XP_006721579.2:p.Ile552Met | |
| XM_011523829.1:c.1554A>G | XP_011522131.1:p.Ile518Met | |
| XM_011523830.1:c.1554A>G | XP_011522132.1:p.Ile518Met | |
| XR_934021.1:n.1759A>G | ||
| XR_934022.1:n.1665A>G | ||
| XR_934023.1:n.1665A>G | ||
| XM_006721516.3:c.1656A>G | XP_006721579.2:p.Ile552Met | |
| XM_011523829.2:c.1554A>G | XP_011522131.1:p.Ile518Met | |
| XM_011523830.2:c.1554A>G | XP_011522132.1:p.Ile518Met | |
| XM_024450741.1:c.1644A>G | XP_024306509.1:p.Ile548Met | |
| XR_934021.2:n.1711A>G | ||
| XR_934022.2:n.1617A>G | ||
| XR_934023.2:n.1617A>G | ||
| NM_000018.4:c.1656A>G MANE Select | NP_000009.1:p.Ile552Met | |
| NM_001033859.3:c.1590A>G | NP_001029031.1:p.Ile530Met | |
| NM_001270447.2:c.1725A>G | NP_001257376.1:p.Ile575Met | |
| NM_001270448.2:c.1428A>G | NP_001257377.1:p.Ile476Met |