Linked Data
ClinVar Variation Id:
649175
ClinVar RCV Id:
RCV000804048
dbSNP Id:
rs1590703419
gnomAD v4:
11-4091485-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4091485C>T , CM000673.2:g.4091485C>T | GRCh38 |
| NC_000011.9:g.4112715C>T , CM000673.1:g.4112715C>T | GRCh37 |
| NC_000011.8:g.4069291C>T | NCBI36 |
| NG_016277.1:g.240783C>T , LRG_164:g.240783C>T | |
| NG_027992.2:g.1792C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525403.6:c.*159C>T | ENSP00000432210.2:n.*159C>T | |
| ENST00000698910.1:c.1256C>T | ENSP00000514024.1:p.Ala419Val | |
| ENST00000698911.1:c.1841C>T | ENSP00000514025.1:p.Ala614Val | |
| ENST00000698912.1:c.*159C>T | ENSP00000514026.1:n.*159C>T | |
| ENST00000698913.1:c.1523C>T | ENSP00000514027.1:p.Ala508Val | |
| ENST00000698915.1:c.1829C>T | ENSP00000514029.1:p.Ala610Val | |
| ENST00000698916.1:c.1766C>T | ENSP00000514030.1:p.Ala589Val | |
| ENST00000698918.1:c.*1483C>T | ENSP00000514031.1:n.*1483C>T | |
| ENST00000698919.1:c.*678C>T | ENSP00000514032.1:n.*678C>T | |
| ENST00000698920.1:n.1045C>T | ||
| ENST00000526596.2:c.1838C>T MANE Select | ENSP00000433266.2:p.Ala613Val | |
| ENST00000300737.8:c.1745C>T | ENSP00000300737.4:p.Ala582Val | |
| ENST00000526156.1:n.543C>T | ||
| ENST00000526596.1:c.1030C>T | ||
| ENST00000527651.5:c.*159C>T | ENSP00000436208.1:n.*159C>T | |
| ENST00000533977.5:c.1226C>T | ENSP00000434767.1:p.Ala409Val | |
| ENST00000616714.4:c.2063C>T | ENSP00000478059.1:p.Ala688Val | |
| NM_001277961.1:c.2063C>T | NP_001264890.1:p.Ala688Val | |
| NM_001277962.1:c.*159C>T | NP_001264891.1:n.*159C>T | |
| NM_003156.3:c.1745C>T , LRG_164t1:c.1745C>T | NP_003147.2:p.Ala582Val | |
| NM_001277962.2:c.*159C>T | NP_001264891.1:n.*159C>T | |
| NM_001277961.3:c.2063C>T | NP_001264890.1:p.Ala688Val | |
| NM_001382566.1:c.1841C>T | NP_001369495.1:p.Ala614Val | |
| NM_001382567.1:c.1838C>T MANE Select | NP_001369496.1:p.Ala613Val | |
| NM_001382568.1:c.1766C>T | NP_001369497.1:p.Ala589Val | |
| NM_001382569.1:c.1610C>T | NP_001369498.1:p.Ala537Val | |
| NM_001382570.1:c.1517C>T | NP_001369499.1:p.Ala506Val | |
| NM_001382571.1:c.1265C>T | NP_001369500.1:p.Ala422Val | |
| NM_001382575.1:c.1523C>T | NP_001369504.1:p.Ala508Val | |
| NM_001382576.1:c.1523C>T | NP_001369505.1:p.Ala508Val | |
| NM_001382577.1:c.1523C>T | NP_001369506.1:p.Ala508Val | |
| NM_001382578.1:c.*159C>T | NP_001369507.1:n.*159C>T | |
| NM_001382579.1:c.*159C>T | NP_001369508.1:n.*159C>T | |
| NM_001382580.1:c.*159C>T | NP_001369509.1:n.*159C>T | |
| NM_001382581.1:c.1256C>T | NP_001369510.1:p.Ala419Val | |
| NM_003156.4:c.1745C>T | NP_003147.2:p.Ala582Val | |
| NR_168436.1:n.1669C>T | ||
| NR_168437.1:n.2174C>T | ||
| NR_168438.1:n.1996C>T |