Linked Data
dbSNP Id:
rs746789759
ExAC:
8:61773517 A / G
gnomAD v2:
8-61773517-A-G
gnomAD v4:
8-60860958-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60860958A>G , CM000670.2:g.60860958A>G | GRCh38 |
| NC_000008.10:g.61773517A>G , CM000670.1:g.61773517A>G | GRCh37 |
| NC_000008.9:g.61936071A>G | NCBI36 |
| NG_007009.1:g.187179A>G , LRG_176:g.187179A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.839A>G | ||
| ENST00000695851.1:n.43A>G | ||
| ENST00000695853.1:c.*722A>G | ENSP00000512218.1:n.*722A>G | |
| ENST00000423902.7:c.7663A>G MANE Select | ENSP00000392028.1:p.Arg2555Gly | |
| ENST00000423902.6:c.7663A>G | ENSP00000392028.1:p.Arg2555Gly | |
| ENST00000524602.5:c.1717-1271A>G | ENSP00000437061.1:n.1717-1271A>G | |
| ENST00000531695.1:n.87A>G | ||
| ENST00000618450.1:n.55A>G | ||
| NM_001316690.1:c.1717-1271A>G | NP_001303619.1:n.1717-1271A>G | |
| NM_017780.3:c.7663A>G | NP_060250.2:p.Arg2555Gly | |
| XM_011517553.1:c.7753A>G | XP_011515855.1:p.Arg2585Gly | |
| XM_011517554.1:c.7753A>G | XP_011515856.1:p.Arg2585Gly | |
| XM_011517555.1:c.7750A>G | XP_011515857.1:p.Arg2584Gly | |
| XM_011517556.1:c.7699-1238A>G | XP_011515858.1:n.7699-1238A>G | |
| XM_011517557.1:c.5740A>G | XP_011515859.1:p.Arg1914Gly | |
| XM_011517558.1:c.5290A>G | XP_011515860.1:p.Arg1764Gly | |
| XM_011517559.1:c.4498A>G | XP_011515861.1:p.Arg1500Gly | |
| XM_011517553.2:c.7753A>G | XP_011515855.1:p.Arg2585Gly | |
| XM_011517554.3:c.7753A>G | XP_011515856.1:p.Arg2585Gly | |
| XM_011517555.2:c.7750A>G | XP_011515857.1:p.Arg2584Gly | |
| XM_017013612.1:c.7753A>G | XP_016869101.1:p.Arg2585Gly | |
| XM_017013613.1:c.7660A>G | XP_016869102.1:p.Arg2554Gly | |
| NM_017780.4:c.7663A>G MANE Select | NP_060250.2:p.Arg2555Gly |