Linked Data
ClinVar Variation Id:
2585595
ClinVar RCV Id:
RCV003338212
dbSNP Id:
rs780941030
ExAC:
11:57428844 C / T
gnomAD v2:
11-57428844-C-T
gnomAD v3:
11-57661372-C-T
gnomAD v4:
11-57661372-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57661372C>T , CM000673.2:g.57661372C>T | GRCh38 |
| NC_000011.9:g.57428844C>T , CM000673.1:g.57428844C>T | GRCh37 |
| NC_000011.8:g.57185420C>T | NCBI36 |
| NG_034248.1:g.8629C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000533682.2:c.1214C>T MANE Select | ENSP00000434995.1:p.Ala405Val | |
| ENST00000681650.1:c.1214C>T | ENSP00000506714.1:p.Ala405Val | |
| ENST00000302731.4:c.1022C>T | ENSP00000304704.4:p.Ala341Val | |
| ENST00000525602.1:c.1214C>T | ENSP00000436066.1:p.Ala405Val | |
| ENST00000529430.1:c.1247C>T | ENSP00000433406.1:p.Ala416Val | |
| ENST00000533682.1:c.1214C>T | ENSP00000434995.1:p.Ala405Val | |
| NM_001142597.1:c.1022C>T | NP_001136069.1:p.Ala341Val | |
| NM_006831.2:c.1214C>T | NP_006822.1:p.Ala405Val | |
| NM_006831.3:c.1214C>T MANE Select | NP_006822.1:p.Ala405Val | |
| NM_001142597.2:c.1022C>T | NP_001136069.1:p.Ala341Val |