Linked Data
ClinVar Variation Id:
1110258
ClinVar RCV Id:
RCV001436442
dbSNP Id:
rs368514254
ExAC:
5:131726506 C / T
gnomAD v2:
5-131726506-C-T
gnomAD v3:
5-132390814-C-T
gnomAD v4:
5-132390814-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390814C>T , CM000667.2:g.132390814C>T | GRCh38 |
| NC_000005.9:g.131726506C>T , CM000667.1:g.131726506C>T | GRCh37 |
| NC_000005.8:g.131754405C>T | NCBI36 |
| NG_008982.1:g.26106C>T | |
| NG_008982.2:g.26111C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1018C>T | ENSP00000388838.2:p.Leu340= | |
| ENST00000435065.7:c.1249C>T | ENSP00000402760.2:p.Leu417= | |
| ENST00000448810.6:c.*29C>T | ENSP00000401860.2:n.*29C>T | |
| ENST00000685543.1:n.1318C>T | ||
| ENST00000686757.1:c.*341C>T | ENSP00000510721.1:n.*341C>T | |
| ENST00000687740.1:n.3862C>T | ||
| ENST00000688151.1:n.2487C>T | ||
| ENST00000689271.1:c.1024C>T | ENSP00000510797.1:p.Leu342= | |
| ENST00000690900.1:c.*341C>T | ENSP00000510703.1:n.*341C>T | |
| ENST00000692212.1:n.2789C>T | ||
| ENST00000692355.1:c.430C>T | ||
| ENST00000692413.1:c.1159C>T | ENSP00000509374.1:p.Leu387= | |
| ENST00000692825.1:c.1245C>T | ENSP00000509447.1:n.1245C>T | |
| ENST00000693308.1:c.1225C>T | ENSP00000509770.1:p.Leu409= | |
| ENST00000693763.1:n.2337C>T | ||
| ENST00000245407.8:c.1177C>T MANE Select | ENSP00000245407.3:p.Leu393= | |
| ENST00000245407.7:c.1177C>T | ENSP00000245407.3:p.Leu393= | |
| ENST00000435065.6:c.1249C>T | ENSP00000402760.2:p.Leu417= | |
| ENST00000447841.5:c.112-1619C>T | ||
| ENST00000448810.5:c.439C>T | ||
| ENST00000461013.5:n.8599C>T | ||
| ENST00000475308.1:n.1855C>T | ||
| ENST00000479605.5:n.280C>T | ||
| NM_001308122.1:c.1249C>T | NP_001295051.1:p.Leu417= | |
| NM_003060.3:c.1177C>T | NP_003051.1:p.Leu393= | |
| XM_011543590.1:c.559C>T | XP_011541892.1:p.Leu187= | |
| XR_427718.1:n.1537C>T | ||
| XR_948290.1:n.1394-1619C>T | ||
| XR_948291.1:n.1531C>T | ||
| XM_011543590.2:c.559C>T | XP_011541892.1:p.Leu187= | |
| XM_017009778.2:c.649C>T | XP_016865267.1:p.Leu217= | |
| XR_001742215.1:n.1432C>T | ||
| XR_001742216.1:n.1451C>T | ||
| XR_427718.2:n.1537C>T | ||
| XR_948290.2:n.1394-1619C>T | ||
| XR_948291.2:n.1531C>T | ||
| NM_003060.4:c.1177C>T MANE Select | NP_003051.1:p.Leu393= | |
| NM_001308122.2:c.1249C>T | NP_001295051.1:p.Leu417= |