Linked Data
ClinVar Variation Id:
94101
dbSNP Id:
rs274558
ExAC:
5:131721174 A / G
gnomAD v2:
5-131721174-A-G
gnomAD v3:
5-132385482-A-G
gnomAD v4:
5-132385482-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132385482A>G , CM000667.2:g.132385482A>G | GRCh38 |
| NC_000005.9:g.131721174A>G , CM000667.1:g.131721174A>G | GRCh37 |
| NC_000005.8:g.131749073A>G | NCBI36 |
| NG_008982.1:g.20774A>G | |
| NG_008982.2:g.20779A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.665+1168A>G | ENSP00000388838.2:n.665+1168A>G | |
| ENST00000435065.7:c.879A>G | ENSP00000402760.2:p.Leu293= | |
| ENST00000448810.6:c.807A>G | ENSP00000401860.2:p.Leu269= | |
| ENST00000686757.1:c.826A>G | ENSP00000510721.1:p.Met276Val | |
| ENST00000687740.1:n.1967A>G | ||
| ENST00000688151.1:n.1999A>G | ||
| ENST00000689271.1:c.671+1162A>G | ENSP00000510797.1:n.671+1162A>G | |
| ENST00000690900.1:c.778A>G | ENSP00000510703.1:p.Met260Val | |
| ENST00000692212.1:n.633A>G | ||
| ENST00000692355.1:c.204+1181A>G | ||
| ENST00000692413.1:c.826A>G | ENSP00000509374.1:p.Met276Val | |
| ENST00000692825.1:c.875A>G | ENSP00000509447.1:n.875A>G | |
| ENST00000693308.1:c.820A>G | ENSP00000509770.1:p.Met274Val | |
| ENST00000693763.1:n.1967A>G | ||
| ENST00000245407.8:c.807A>G MANE Select | ENSP00000245407.3:p.Leu269= | |
| ENST00000245407.7:c.807A>G | ENSP00000245407.3:p.Leu269= | |
| ENST00000415928.5:c.576A>G | ENSP00000388838.1:p.Leu192= | |
| ENST00000435065.6:c.879A>G | ENSP00000402760.2:p.Leu293= | |
| ENST00000437841.6:c.*122A>G | ENSP00000400553.1:n.*122A>G | |
| ENST00000448810.5:c.155A>G | ||
| ENST00000461013.5:n.8229A>G | ||
| NM_001308122.1:c.879A>G | NP_001295051.1:p.Leu293= | |
| NM_003060.3:c.807A>G | NP_003051.1:p.Leu269= | |
| XM_011543590.1:c.189A>G | XP_011541892.1:p.Leu63= | |
| XR_427718.1:n.1167A>G | ||
| XR_948290.1:n.1148A>G | ||
| XR_948291.1:n.1161A>G | ||
| XM_011543590.2:c.189A>G | XP_011541892.1:p.Leu63= | |
| XM_017009778.2:c.279A>G | XP_016865267.1:p.Leu93= | |
| XR_001742215.1:n.1148A>G | ||
| XR_001742216.1:n.1167A>G | ||
| XR_427718.2:n.1167A>G | ||
| XR_948290.2:n.1148A>G | ||
| XR_948291.2:n.1161A>G | ||
| NM_003060.4:c.807A>G MANE Select | NP_003051.1:p.Leu269= | |
| NM_001308122.2:c.879A>G | NP_001295051.1:p.Leu293= |