Linked Data
ClinVar Variation Id:
858027
dbSNP Id:
rs1166753949
gnomAD v2:
5-131726389-A-G
gnomAD v4:
5-132390697-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390697A>G , CM000667.2:g.132390697A>G | GRCh38 |
| NC_000005.9:g.131726389A>G , CM000667.1:g.131726389A>G | GRCh37 |
| NC_000005.8:g.131754288A>G | NCBI36 |
| NG_008982.1:g.25989A>G | |
| NG_008982.2:g.25994A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.901A>G | ENSP00000388838.2:p.Ile301Val | |
| ENST00000435065.7:c.1132A>G | ENSP00000402760.2:p.Ile378Val | |
| ENST00000448810.6:c.1053-79A>G | ENSP00000401860.2:n.1053-79A>G | |
| ENST00000685543.1:n.1201A>G | ||
| ENST00000686757.1:c.*224A>G | ENSP00000510721.1:n.*224A>G | |
| ENST00000687740.1:n.3745A>G | ||
| ENST00000688151.1:n.2370A>G | ||
| ENST00000689271.1:c.907A>G | ENSP00000510797.1:p.Ile303Val | |
| ENST00000690900.1:c.*224A>G | ENSP00000510703.1:n.*224A>G | |
| ENST00000692212.1:n.2672A>G | ||
| ENST00000692355.1:c.313A>G | ||
| ENST00000692413.1:c.1042A>G | ENSP00000509374.1:p.Ile348Val | |
| ENST00000692825.1:c.1128A>G | ENSP00000509447.1:n.1128A>G | |
| ENST00000693308.1:c.1108A>G | ENSP00000509770.1:p.Ile370Val | |
| ENST00000693763.1:n.2220A>G | ||
| ENST00000245407.8:c.1060A>G MANE Select | ENSP00000245407.3:p.Ile354Val | |
| ENST00000245407.7:c.1060A>G | ENSP00000245407.3:p.Ile354Val | |
| ENST00000435065.6:c.1132A>G | ENSP00000402760.2:p.Ile378Val | |
| ENST00000447841.5:c.111+1676A>G | ||
| ENST00000448810.5:c.401-79A>G | ||
| ENST00000461013.5:n.8482A>G | ||
| ENST00000475308.1:n.1738A>G | ||
| ENST00000479605.5:n.163A>G | ||
| NM_001308122.1:c.1132A>G | NP_001295051.1:p.Ile378Val | |
| NM_003060.3:c.1060A>G | NP_003051.1:p.Ile354Val | |
| XM_011543590.1:c.442A>G | XP_011541892.1:p.Ile148Val | |
| XR_427718.1:n.1420A>G | ||
| XR_948290.1:n.1393+1676A>G | ||
| XR_948291.1:n.1414A>G | ||
| XM_011543590.2:c.442A>G | XP_011541892.1:p.Ile148Val | |
| XM_017009778.2:c.532A>G | XP_016865267.1:p.Ile178Val | |
| XR_001742215.1:n.1394-79A>G | ||
| XR_001742216.1:n.1413-79A>G | ||
| XR_427718.2:n.1420A>G | ||
| XR_948290.2:n.1393+1676A>G | ||
| XR_948291.2:n.1414A>G | ||
| NM_003060.4:c.1060A>G MANE Select | NP_003051.1:p.Ile354Val | |
| NM_001308122.2:c.1132A>G | NP_001295051.1:p.Ile378Val |