SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
Linked Data
ClinVar Variation Id:
142269
dbSNP Id:
rs587782350
gnomAD v4:
10-87957955-C-T
COSMIC:
COSM5111
PubMed:
PMID:10076877
PMID:10400993
PMID:12938083
PMID:14566704
PMID:17942903
PMID:21828076
PMID:22261759
PMID:22595938
PMID:23161105
PMID:23934111
PMID:24375884
PMID:24744697
PMID:26681312
PMID:27477328
ERepo:
CA000559/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957955C>T , CM000672.2:g.87957955C>T | GRCh38 |
| NC_000010.10:g.89717712C>T , CM000672.1:g.89717712C>T | GRCh37 |
| NC_000010.9:g.89707692C>T | NCBI36 |
| NG_007466.2:g.99517C>T , LRG_311:g.99517C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.737C>T | ENSP00000514759.2:p.Pro246Leu | |
| ENST00000710265.1:c.737C>T | ENSP00000518161.1:p.Pro246Leu | |
| ENST00000472832.3:c.737C>T | ENSP00000483066.2:p.Pro246Leu | |
| ENST00000688158.2:n.1472C>T | ||
| ENST00000688922.2:c.*567C>T | ENSP00000508742.2:n.*567C>T | |
| ENST00000700021.1:c.692C>T | ENSP00000514757.1:p.Pro231Leu | |
| ENST00000700022.1:c.*76C>T | ENSP00000514758.1:n.*76C>T | |
| ENST00000700023.1:n.1895C>T | ||
| ENST00000700024.1:n.2129C>T | ||
| ENST00000700025.1:n.1506C>T | ||
| ENST00000700026.1:n.374C>T | ||
| ENST00000700029.1:c.571C>T | ||
| ENST00000706954.1:c.737C>T | ENSP00000516674.1:p.Pro246Leu | |
| ENST00000706955.1:c.*772C>T | ENSP00000516675.1:n.*772C>T | |
| ENST00000686459.1:c.*323C>T | ENSP00000508909.1:n.*323C>T | |
| ENST00000688158.1:c.*848C>T | ENSP00000509254.1:n.*848C>T | |
| ENST00000688308.1:c.737C>T | ENSP00000508752.1:p.Pro246Leu | |
| ENST00000688922.1:c.658C>T | ||
| ENST00000693560.1:c.1256C>T | ENSP00000509861.1:p.Pro419Leu | |
| ENST00000371953.8:c.737C>T MANE Select | ENSP00000361021.3:p.Pro246Leu | |
| ENST00000371953.7:c.737C>T | ENSP00000361021.3:p.Pro246Leu | |
| ENST00000472832.2:c.164C>T | ENSP00000483066.1:p.Pro55Leu | |
| NM_000314.5:c.737C>T | NP_000305.3:p.Pro246Leu | |
| NM_000314.6:c.737C>T | NP_000305.3:p.Pro246Leu | |
| NM_001304717.2:c.1256C>T | NP_001291646.2:p.Pro419Leu | |
| NM_001304718.1:c.146C>T | NP_001291647.1:p.Pro49Leu | |
| XM_006717926.2:c.692C>T | XP_006717989.1:p.Pro231Leu | |
| XM_011539981.1:c.737C>T | XP_011538283.1:p.Pro246Leu | |
| XM_011539982.1:c.641C>T | XP_011538284.1:p.Pro214Leu | |
| XR_945791.1:n.1307C>T | ||
| NM_000314.7:c.737C>T | NP_000305.3:p.Pro246Leu | |
| NM_001304717.5:c.1256C>T | NP_001291646.4:p.Pro419Leu | |
| NM_001304718.2:c.146C>T | NP_001291647.1:p.Pro49Leu | |
| NM_000314.8:c.737C>T MANE Select | NP_000305.3:p.Pro246Leu |