Linked Data
dbSNP Id:
rs775040877
ExAC:
4:81123569 A / G
gnomAD v2:
4-81123569-A-G
gnomAD v4:
4-80202415-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80202415A>G , CM000666.2:g.80202415A>G | GRCh38 |
| NC_000004.11:g.81123569A>G , CM000666.1:g.81123569A>G | GRCh37 |
| NC_000004.10:g.81342593A>G | NCBI36 |
| NG_046725.1:g.22146A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415738.3:c.953A>G MANE Select | ENSP00000406998.2:p.Glu318Gly | |
| ENST00000339711.8:c.953A>G | ENSP00000339764.4:p.Glu318Gly | |
| ENST00000415738.2:c.953A>G | ENSP00000406998.2:p.Glu318Gly | |
| ENST00000504452.5:c.953A>G | ENSP00000423985.1:p.Glu318Gly | |
| ENST00000515013.5:c.953A>G | ENSP00000425149.1:p.Glu318Gly | |
| NM_001099403.1:c.953A>G | NP_001092873.1:p.Glu318Gly | |
| NM_020226.3:c.953A>G | NP_064611.3:p.Glu318Gly | |
| XM_005263144.2:c.956A>G | XP_005263201.1:p.Glu319Gly | |
| XM_005263145.2:c.956A>G | XP_005263202.1:p.Glu319Gly | |
| XM_005263146.3:c.953A>G | XP_005263203.1:p.Glu318Gly | |
| XM_011532133.1:c.1796A>G | XP_011530435.1:p.Glu599Gly | |
| XM_011532134.1:c.1793A>G | XP_011530436.1:p.Glu598Gly | |
| XM_011532135.1:c.1655A>G | XP_011530437.1:p.Glu552Gly | |
| XM_011532136.1:c.1508A>G | XP_011530438.1:p.Glu503Gly | |
| XM_011532137.1:c.1508A>G | XP_011530439.1:p.Glu503Gly | |
| XM_011532138.1:c.1508A>G | XP_011530440.1:p.Glu503Gly | |
| XM_011532139.1:c.1508A>G | XP_011530441.1:p.Glu503Gly | |
| XM_011532140.1:c.1508A>G | XP_011530442.1:p.Glu503Gly | |
| XM_011532141.1:c.1370A>G | XP_011530443.1:p.Glu457Gly | |
| XM_011532142.1:c.1349A>G | XP_011530444.1:p.Glu450Gly | |
| XM_005263146.4:c.953A>G | XP_005263203.1:p.Glu318Gly | |
| XM_011532133.2:c.1796A>G | XP_011530435.1:p.Glu599Gly | |
| XM_011532135.2:c.1655A>G | XP_011530437.1:p.Glu552Gly | |
| XM_011532140.2:c.1508A>G | XP_011530442.1:p.Glu503Gly | |
| XM_011532141.3:c.1370A>G | XP_011530443.1:p.Glu457Gly | |
| XM_017008468.1:c.1505A>G | XP_016863957.1:p.Glu502Gly | |
| XM_017008469.1:c.1592A>G | XP_016863958.1:p.Glu531Gly | |
| XM_017008470.1:c.1508A>G | XP_016863959.1:p.Glu503Gly | |
| NM_001099403.2:c.953A>G MANE Select | NP_001092873.1:p.Glu318Gly | |
| NM_020226.4:c.953A>G | NP_064611.3:p.Glu318Gly |