Linked Data
ClinVar Variation Id:
1116247
ClinVar RCV Id:
RCV001444579
dbSNP Id:
rs780591287
MyVariant Identifiers:
chr5:g.131726584C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390892C>T , CM000667.2:g.132390892C>T | GRCh38 |
| NC_000005.9:g.131726584C>T , CM000667.1:g.131726584C>T | GRCh37 |
| NC_000005.8:g.131754483C>T | NCBI36 |
| NG_008982.1:g.26184C>T | |
| NG_008982.2:g.26189C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1096C>T | ENSP00000388838.2:p.Leu366= | |
| ENST00000435065.7:c.1327C>T | ENSP00000402760.2:p.Leu443= | |
| ENST00000448810.6:c.*107C>T | ENSP00000401860.2:n.*107C>T | |
| ENST00000685543.1:n.1396C>T | ||
| ENST00000686757.1:c.*419C>T | ENSP00000510721.1:n.*419C>T | |
| ENST00000687740.1:n.3940C>T | ||
| ENST00000688151.1:n.2565C>T | ||
| ENST00000689271.1:c.1102C>T | ENSP00000510797.1:p.Leu368= | |
| ENST00000690900.1:c.*419C>T | ENSP00000510703.1:n.*419C>T | |
| ENST00000692212.1:n.2867C>T | ||
| ENST00000692355.1:c.508C>T | ||
| ENST00000692413.1:c.1237C>T | ENSP00000509374.1:p.Leu413= | |
| ENST00000692825.1:c.1323C>T | ENSP00000509447.1:n.1323C>T | |
| ENST00000693308.1:c.1303C>T | ENSP00000509770.1:p.Leu435= | |
| ENST00000693763.1:n.2415C>T | ||
| ENST00000245407.8:c.1255C>T MANE Select | ENSP00000245407.3:p.Leu419= | |
| ENST00000245407.7:c.1255C>T | ENSP00000245407.3:p.Leu419= | |
| ENST00000435065.6:c.1327C>T | ENSP00000402760.2:p.Leu443= | |
| ENST00000447841.5:c.112-1541C>T | ||
| ENST00000448810.5:c.517C>T | ||
| ENST00000461013.5:n.8677C>T | ||
| ENST00000475308.1:n.1933C>T | ||
| ENST00000479605.5:n.358C>T | ||
| NM_001308122.1:c.1327C>T | NP_001295051.1:p.Leu443= | |
| NM_003060.3:c.1255C>T | NP_003051.1:p.Leu419= | |
| XM_011543590.1:c.637C>T | XP_011541892.1:p.Leu213= | |
| XR_427718.1:n.1615C>T | ||
| XR_948290.1:n.1394-1541C>T | ||
| XR_948291.1:n.1609C>T | ||
| XM_011543590.2:c.637C>T | XP_011541892.1:p.Leu213= | |
| XM_017009778.2:c.727C>T | XP_016865267.1:p.Leu243= | |
| XR_001742215.1:n.1510C>T | ||
| XR_001742216.1:n.1529C>T | ||
| XR_427718.2:n.1615C>T | ||
| XR_948290.2:n.1394-1541C>T | ||
| XR_948291.2:n.1609C>T | ||
| NM_003060.4:c.1255C>T MANE Select | NP_003051.1:p.Leu419= | |
| NM_001308122.2:c.1327C>T | NP_001295051.1:p.Leu443= |