Linked Data
ClinVar Variation Id:
930246
ClinVar RCV Id:
RCV001195769
dbSNP Id:
rs1889226797
gnomAD v4:
14-91877542-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91877542G>A , CM000676.2:g.91877542G>A | GRCh38 |
| NC_000014.8:g.92343886G>A , CM000676.1:g.92343886G>A | GRCh37 |
| NC_000014.7:g.91413639G>A | NCBI36 |
| NG_008254.1:g.75161C>T , LRG_364:g.75161C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557088.6:c.*1096C>T | ENSP00000451002.1:n.*1096C>T | |
| ENST00000557570.2:c.962C>T | ENSP00000450787.2:p.Ala321Val | |
| ENST00000706675.1:n.945C>T | ||
| ENST00000706676.1:c.1304C>T | ENSP00000516492.1:p.Ala435Val | |
| ENST00000706677.1:c.1130C>T | ENSP00000516493.1:p.Ala377Val | |
| ENST00000706678.1:n.1050C>T | ||
| ENST00000706679.1:c.962C>T | ENSP00000516494.1:p.Ala321Val | |
| ENST00000706680.1:c.*973C>T | ENSP00000516495.1:n.*973C>T | |
| ENST00000706681.1:c.*869C>T | ENSP00000516496.1:n.*869C>T | |
| ENST00000342058.9:c.1130C>T MANE Select | ENSP00000345008.4:p.Ala377Val | |
| ENST00000267620.14:c.1253C>T | ENSP00000267620.10:p.Ala418Val | |
| ENST00000342058.8:c.1130C>T | ENSP00000345008.4:p.Ala377Val | |
| ENST00000554121.2:n.256C>T | ||
| ENST00000556154.5:c.1145C>T | ENSP00000451982.1:p.Ala382Val | |
| NM_006329.3:c.1130C>T , LRG_364t1:c.1130C>T | NP_006320.2:p.Ala377Val | |
| XM_005267267.3:c.1181C>T | XP_005267324.1:p.Ala394Val | |
| XM_011536356.1:c.1181C>T | XP_011534658.1:p.Ala394Val | |
| XM_011536357.1:c.1130C>T | XP_011534659.1:p.Ala377Val | |
| XM_011536358.1:c.962C>T | XP_011534660.1:p.Ala321Val | |
| XM_011536357.2:c.1130C>T | XP_011534659.1:p.Ala377Val | |
| XM_011536358.2:c.962C>T | XP_011534660.1:p.Ala321Val | |
| XM_017020929.2:c.962C>T | XP_016876418.1:p.Ala321Val | |
| NM_001384158.1:c.1253C>T | NP_001371087.1:p.Ala418Val | |
| NM_001384159.1:c.1181C>T | NP_001371088.1:p.Ala394Val | |
| NM_001384160.1:c.1130C>T | NP_001371089.1:p.Ala377Val | |
| NM_001384161.1:c.962C>T | NP_001371090.1:p.Ala321Val | |
| NM_001384162.1:c.962C>T | NP_001371091.1:p.Ala321Val | |
| NM_006329.4:c.1130C>T MANE Select | NP_006320.2:p.Ala377Val |