Linked Data
dbSNP Id:
rs386134203
ExAC:
5:131721136 C / G
gnomAD v2:
5-131721136-C-G
gnomAD v4:
5-132385444-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132385444C>G , CM000667.2:g.132385444C>G | GRCh38 |
| NC_000005.9:g.131721136C>G , CM000667.1:g.131721136C>G | GRCh37 |
| NC_000005.8:g.131749035C>G | NCBI36 |
| NG_008982.1:g.20736C>G | |
| NG_008982.2:g.20741C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.665+1130C>G | ENSP00000388838.2:n.665+1130C>G | |
| ENST00000435065.7:c.841C>G | ENSP00000402760.2:p.Arg281Gly | |
| ENST00000448810.6:c.769C>G | ENSP00000401860.2:p.Arg257Gly | |
| ENST00000686757.1:c.788C>G | ENSP00000510721.1:p.Ala263Gly | |
| ENST00000687740.1:n.1929C>G | ||
| ENST00000688151.1:n.1961C>G | ||
| ENST00000689271.1:c.671+1124C>G | ENSP00000510797.1:n.671+1124C>G | |
| ENST00000690900.1:c.740C>G | ENSP00000510703.1:p.Ala247Gly | |
| ENST00000692212.1:n.595C>G | ||
| ENST00000692355.1:c.204+1143C>G | ||
| ENST00000692413.1:c.788C>G | ENSP00000509374.1:p.Ala263Gly | |
| ENST00000692825.1:c.837C>G | ENSP00000509447.1:n.837C>G | |
| ENST00000693308.1:c.782C>G | ENSP00000509770.1:p.Ala261Gly | |
| ENST00000693763.1:n.1929C>G | ||
| ENST00000245407.8:c.769C>G MANE Select | ENSP00000245407.3:p.Arg257Gly | |
| ENST00000245407.7:c.769C>G | ENSP00000245407.3:p.Arg257Gly | |
| ENST00000415928.5:c.538C>G | ENSP00000388838.1:p.Arg180Gly | |
| ENST00000435065.6:c.841C>G | ENSP00000402760.2:p.Arg281Gly | |
| ENST00000437841.6:c.*84C>G | ENSP00000400553.1:n.*84C>G | |
| ENST00000448810.5:c.117C>G | ||
| ENST00000461013.5:n.8191C>G | ||
| NM_001308122.1:c.841C>G | NP_001295051.1:p.Arg281Gly | |
| NM_003060.3:c.769C>G | NP_003051.1:p.Arg257Gly | |
| XM_011543590.1:c.151C>G | XP_011541892.1:p.Arg51Gly | |
| XR_427718.1:n.1129C>G | ||
| XR_948290.1:n.1110C>G | ||
| XR_948291.1:n.1123C>G | ||
| XM_011543590.2:c.151C>G | XP_011541892.1:p.Arg51Gly | |
| XM_017009778.2:c.241C>G | XP_016865267.1:p.Arg81Gly | |
| XR_001742215.1:n.1110C>G | ||
| XR_001742216.1:n.1129C>G | ||
| XR_427718.2:n.1129C>G | ||
| XR_948290.2:n.1110C>G | ||
| XR_948291.2:n.1123C>G | ||
| NM_003060.4:c.769C>G MANE Select | NP_003051.1:p.Arg257Gly | |
| NM_001308122.2:c.841C>G | NP_001295051.1:p.Arg281Gly |