Linked Data
ClinVar Variation Id:
492379
dbSNP Id:
rs1374461662
gnomAD v3:
17-58703304-C-T
gnomAD v4:
17-58703304-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58703304C>T , CM000679.2:g.58703304C>T | GRCh38 |
| NC_000017.10:g.56780665C>T , CM000679.1:g.56780665C>T | GRCh37 |
| NC_000017.9:g.54135664C>T | NCBI36 |
| NG_023199.1:g.15703C>T , LRG_314:g.15703C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.329C>T | ENSP00000464056.2:p.Pro110Leu | |
| ENST00000697677.1:n.1761C>T | ||
| ENST00000697678.1:n.582C>T | ||
| ENST00000697679.1:n.1754C>T | ||
| ENST00000697680.1:c.*1544C>T | ENSP00000513392.1:n.*1544C>T | |
| ENST00000697681.1:c.*1696C>T | ENSP00000513393.1:n.*1696C>T | |
| ENST00000697683.1:c.*1544C>T | ENSP00000513395.1:n.*1544C>T | |
| ENST00000697684.1:n.740C>T | ||
| ENST00000697685.1:c.*1377C>T | ENSP00000513396.1:n.*1377C>T | |
| ENST00000697686.1:c.329C>T | ENSP00000513397.1:p.Pro110Leu | |
| ENST00000697687.1:n.559C>T | ||
| ENST00000697688.1:n.726C>T | ||
| ENST00000697689.1:c.*1216C>T | ENSP00000513398.1:n.*1216C>T | |
| ENST00000697690.1:c.680C>T | ENSP00000513399.1:p.Pro227Leu | |
| ENST00000697691.1:c.*652C>T | ENSP00000513400.1:n.*652C>T | |
| ENST00000697692.1:c.*692C>T | ENSP00000513401.1:n.*692C>T | |
| ENST00000697694.1:c.329C>T | ENSP00000513402.1:p.Pro110Leu | |
| ENST00000697695.1:n.1287C>T | ||
| ENST00000337432.9:c.680C>T MANE Select | ENSP00000336701.4:p.Pro227Leu | |
| ENST00000337432.8:c.680C>T | ENSP00000336701.4:p.Pro227Leu | |
| ENST00000413590.5:c.318C>T | ||
| ENST00000425173.5:c.476C>T | ENSP00000407282.1:p.Pro159Leu | |
| ENST00000461271.5:c.329C>T | ENSP00000464056.1:p.Pro110Leu | |
| ENST00000475762.5:c.*1383C>T | ENSP00000432421.1:n.*1383C>T | |
| ENST00000482007.5:c.*108C>T | ENSP00000433332.1:n.*108C>T | |
| ENST00000487525.5:c.*108C>T | ENSP00000431637.1:n.*108C>T | |
| ENST00000487921.5:n.592C>T | ||
| ENST00000583539.5:c.680C>T | ENSP00000463121.1:p.Pro227Leu | |
| ENST00000584617.5:c.402C>T | ||
| NM_058216.2:c.680C>T | NP_478123.1:p.Pro227Leu | |
| NR_103872.1:n.584C>T | ||
| XM_006722001.2:c.680C>T | XP_006722064.1:p.Pro227Leu | |
| XM_006722002.2:c.680C>T | XP_006722065.1:p.Pro227Leu | |
| XM_006722004.2:c.329C>T | XP_006722067.1:p.Pro110Leu | |
| XM_006722005.2:c.329C>T | XP_006722068.1:p.Pro110Leu | |
| XM_011525092.1:c.329C>T | XP_011523394.1:p.Pro110Leu | |
| XM_011525093.1:c.329C>T | XP_011523395.1:p.Pro110Leu | |
| XM_011525094.1:c.329C>T | XP_011523396.1:p.Pro110Leu | |
| XR_934513.1:n.753C>T | ||
| XR_934514.1:n.753C>T | ||
| XM_006722001.4:c.680C>T | XP_006722064.1:p.Pro227Leu | |
| XM_006722002.4:c.680C>T | XP_006722065.1:p.Pro227Leu | |
| XM_006722004.3:c.329C>T | XP_006722067.1:p.Pro110Leu | |
| XM_006722005.3:c.329C>T | XP_006722068.1:p.Pro110Leu | |
| XM_011525092.2:c.329C>T | XP_011523394.1:p.Pro110Leu | |
| XM_011525093.2:c.329C>T | XP_011523395.1:p.Pro110Leu | |
| XM_011525094.2:c.329C>T | XP_011523396.1:p.Pro110Leu | |
| XM_017024914.1:c.329C>T | XP_016880403.1:p.Pro110Leu | |
| XM_017024915.1:c.329C>T | XP_016880404.1:p.Pro110Leu | |
| XM_017024916.1:c.329C>T | XP_016880405.1:p.Pro110Leu | |
| XM_017024917.1:c.329C>T | XP_016880406.1:p.Pro110Leu | |
| XM_017024918.2:c.329C>T | XP_016880407.1:p.Pro110Leu | |
| XM_017024919.1:c.329C>T | XP_016880408.1:p.Pro110Leu | |
| XR_934513.3:n.1184C>T | ||
| XR_934514.3:n.1184C>T | ||
| NM_058216.3:c.680C>T MANE Select | NP_478123.1:p.Pro227Leu | |
| NR_103872.2:n.555C>T |