Linked Data
ClinVar Variation Id:
5464
dbSNP Id:
rs137853151
gnomAD v2:
11-67815139-G-T
gnomAD v3:
11-68047672-G-T
gnomAD v4:
11-68047672-G-T
PubMed:
PMID:11532986
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68047672G>T , CM000673.2:g.68047672G>T | GRCh38 |
| NC_000011.9:g.67815139G>T , CM000673.1:g.67815139G>T | GRCh37 |
| NC_000011.8:g.67571715G>T | NCBI36 |
| NG_007878.1:g.13657G>T , LRG_115:g.13657G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698254.1:c.860G>T | ENSP00000513629.1:p.Arg287Leu | |
| ENST00000698255.1:c.1280G>T | ENSP00000513630.1:p.Arg427Leu | |
| ENST00000698256.1:c.797G>T | ||
| ENST00000698257.1:n.749G>T | ||
| ENST00000698258.1:n.389G>T | ||
| ENST00000698259.1:n.155G>T | ||
| ENST00000265686.8:c.1331G>T MANE Select | ENSP00000265686.3:p.Arg444Leu | |
| ENST00000265686.7:c.1331G>T | ENSP00000265686.3:p.Arg444Leu | |
| ENST00000525516.1:n.125G>T | ||
| ENST00000525724.5:n.643G>T | ||
| ENST00000528981.5:c.483G>T | ||
| ENST00000529364.1:c.742G>T | ||
| ENST00000532635.5:c.683G>T | ENSP00000434407.1:p.Arg228Leu | |
| ENST00000533005.5:n.367G>T | ||
| NM_006019.3:c.1331G>T | NP_006010.2:p.Arg444Leu | |
| NM_006053.3:c.683G>T | NP_006044.1:p.Arg228Leu | |
| XM_005273709.2:c.1331G>T | XP_005273766.1:p.Arg444Leu | |
| XM_011544726.1:c.1331G>T | XP_011543028.1:p.Arg444Leu | |
| XM_011544727.1:c.1331G>T | XP_011543029.1:p.Arg444Leu | |
| XM_011544728.1:c.1331G>T | XP_011543030.1:p.Arg444Leu | |
| XM_011544729.1:c.1347G>T | XP_011543031.1:p.Pro449= | |
| XR_949754.1:n.1335G>T | ||
| NM_001351059.1:c.437G>T | NP_001337988.1:p.Arg146Leu | |
| XM_024448320.1:c.1347G>T | XP_024304088.1:p.Pro449= | |
| XM_024448321.1:c.1347G>T | XP_024304089.1:p.Pro449= | |
| XM_024448322.1:c.1347G>T | XP_024304090.1:p.Pro449= | |
| XM_024448323.1:c.1347G>T | XP_024304091.1:p.Pro449= | |
| XM_024448324.1:c.1347G>T | XP_024304092.1:p.Pro449= | |
| XR_001747721.2:n.1455G>T | ||
| XR_001747722.1:n.1468G>T | ||
| XR_001747723.2:n.1468G>T | ||
| XR_002957115.1:n.1469G>T | ||
| NM_006019.4:c.1331G>T MANE Select | NP_006010.2:p.Arg444Leu | |
| NM_001351059.2:c.437G>T | NP_001337988.1:p.Arg146Leu | |
| NM_006053.4:c.683G>T | NP_006044.1:p.Arg228Leu |