Linked Data
ClinVar Variation Id:
25411
dbSNP Id:
rs144547521
ExAC:
5:131726522 C / T
gnomAD v2:
5-131726522-C-T
gnomAD v3:
5-132390830-C-T
gnomAD v4:
5-132390830-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390830C>T , CM000667.2:g.132390830C>T | GRCh38 |
| NC_000005.9:g.131726522C>T , CM000667.1:g.131726522C>T | GRCh37 |
| NC_000005.8:g.131754421C>T | NCBI36 |
| NG_008982.1:g.26122C>T | |
| NG_008982.2:g.26127C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.1034C>T | ENSP00000388838.2:p.Pro345Leu | |
| ENST00000435065.7:c.1265C>T | ENSP00000402760.2:p.Pro422Leu | |
| ENST00000448810.6:c.*45C>T | ENSP00000401860.2:n.*45C>T | |
| ENST00000685543.1:n.1334C>T | ||
| ENST00000686757.1:c.*357C>T | ENSP00000510721.1:n.*357C>T | |
| ENST00000687740.1:n.3878C>T | ||
| ENST00000688151.1:n.2503C>T | ||
| ENST00000689271.1:c.1040C>T | ENSP00000510797.1:p.Pro347Leu | |
| ENST00000690900.1:c.*357C>T | ENSP00000510703.1:n.*357C>T | |
| ENST00000692212.1:n.2805C>T | ||
| ENST00000692355.1:c.446C>T | ||
| ENST00000692413.1:c.1175C>T | ENSP00000509374.1:p.Pro392Leu | |
| ENST00000692825.1:c.1261C>T | ENSP00000509447.1:n.1261C>T | |
| ENST00000693308.1:c.1241C>T | ENSP00000509770.1:p.Pro414Leu | |
| ENST00000693763.1:n.2353C>T | ||
| ENST00000245407.8:c.1193C>T MANE Select | ENSP00000245407.3:p.Pro398Leu | |
| ENST00000245407.7:c.1193C>T | ENSP00000245407.3:p.Pro398Leu | |
| ENST00000435065.6:c.1265C>T | ENSP00000402760.2:p.Pro422Leu | |
| ENST00000447841.5:c.112-1603C>T | ||
| ENST00000448810.5:c.455C>T | ||
| ENST00000461013.5:n.8615C>T | ||
| ENST00000475308.1:n.1871C>T | ||
| ENST00000479605.5:n.296C>T | ||
| NM_001308122.1:c.1265C>T | NP_001295051.1:p.Pro422Leu | |
| NM_003060.3:c.1193C>T | NP_003051.1:p.Pro398Leu | |
| XM_011543590.1:c.575C>T | XP_011541892.1:p.Pro192Leu | |
| XR_427718.1:n.1553C>T | ||
| XR_948290.1:n.1394-1603C>T | ||
| XR_948291.1:n.1547C>T | ||
| XM_011543590.2:c.575C>T | XP_011541892.1:p.Pro192Leu | |
| XM_017009778.2:c.665C>T | XP_016865267.1:p.Pro222Leu | |
| XR_001742215.1:n.1448C>T | ||
| XR_001742216.1:n.1467C>T | ||
| XR_427718.2:n.1553C>T | ||
| XR_948290.2:n.1394-1603C>T | ||
| XR_948291.2:n.1547C>T | ||
| NM_003060.4:c.1193C>T MANE Select | NP_003051.1:p.Pro398Leu | |
| NM_001308122.2:c.1265C>T | NP_001295051.1:p.Pro422Leu |