Linked Data
ClinVar Variation Id:
9209
ClinVar RCV Id:
RCV000009789
dbSNP Id:
rs137852648
PubMed:
PMID:19329989
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30612107C>T , CM000669.2:g.30612107C>T | GRCh38 |
| NC_000007.13:g.30651723C>T , CM000669.1:g.30651723C>T | GRCh37 |
| NC_000007.12:g.30618248C>T | NCBI36 |
| NG_007942.1:g.22543C>T , LRG_243:g.22543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.893C>T MANE Select | ENSP00000373918.3:p.Pro298Leu | |
| ENST00000444666.6:c.893C>T | ENSP00000415447.2:p.Pro298Leu | |
| ENST00000470392.2:n.983C>T | ||
| ENST00000478124.6:n.956C>T | ||
| ENST00000485784.2:n.972C>T | ||
| ENST00000674616.1:c.*607C>T | ENSP00000502408.1:n.*607C>T | |
| ENST00000674643.1:c.893C>T | ENSP00000501636.1:p.Pro298Leu | |
| ENST00000674734.1:n.1389C>T | ||
| ENST00000674737.1:c.*231C>T | ENSP00000502464.1:n.*231C>T | |
| ENST00000674807.1:c.893C>T | ENSP00000502814.1:p.Pro298Leu | |
| ENST00000674815.1:c.524C>T | ENSP00000502799.1:p.Pro175Leu | |
| ENST00000674851.1:c.524C>T | ENSP00000502451.1:p.Pro175Leu | |
| ENST00000674969.1:n.2766C>T | ||
| ENST00000675051.1:c.692C>T | ENSP00000502296.1:p.Pro231Leu | |
| ENST00000675529.1:c.*763C>T | ENSP00000501655.1:n.*763C>T | |
| ENST00000675587.1:n.909C>T | ||
| ENST00000675651.1:c.893C>T | ENSP00000502513.1:p.Pro298Leu | |
| ENST00000675693.1:c.725C>T | ENSP00000502174.1:p.Pro242Leu | |
| ENST00000675810.1:c.791C>T | ENSP00000502743.1:p.Pro264Leu | |
| ENST00000675859.1:c.893C>T | ENSP00000502033.1:p.Pro298Leu | |
| ENST00000675863.1:n.901C>T | ||
| ENST00000675886.1:n.6933C>T | ||
| ENST00000676088.1:c.*835C>T | ENSP00000501884.1:n.*835C>T | |
| ENST00000676140.1:c.893C>T | ENSP00000502571.1:p.Pro298Leu | |
| ENST00000676164.1:c.*344C>T | ENSP00000501986.1:n.*344C>T | |
| ENST00000676210.1:c.*182C>T | ENSP00000502373.1:n.*182C>T | |
| ENST00000676259.1:c.*325C>T | ENSP00000501980.1:n.*325C>T | |
| ENST00000676403.1:c.893C>T | ENSP00000502681.1:p.Pro298Leu | |
| ENST00000389266.7:c.893C>T | ENSP00000373918.3:p.Pro298Leu | |
| ENST00000478124.5:n.931C>T | ||
| NM_001316772.1:c.731C>T | NP_001303701.1:p.Pro244Leu | |
| NM_002047.2:c.893C>T , LRG_243t1:c.893C>T | NP_002038.2:p.Pro298Leu | |
| NM_002047.3:c.893C>T | NP_002038.2:p.Pro298Leu | |
| XM_006715686.1:c.524C>T | XP_006715749.1:p.Pro175Leu | |
| XM_006715686.2:c.524C>T | XP_006715749.1:p.Pro175Leu | |
| NM_002047.4:c.893C>T MANE Select | NP_002038.2:p.Pro298Leu |