Linked Data
ClinVar Variation Id:
6825
dbSNP Id:
rs267606999
gnomAD v2:
17-56774063-G-C
gnomAD v3:
17-58696702-G-C
gnomAD v4:
17-58696702-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58696702G>C , CM000679.2:g.58696702G>C | GRCh38 |
| NC_000017.10:g.56774063G>C , CM000679.1:g.56774063G>C | GRCh37 |
| NC_000017.9:g.54129062G>C | NCBI36 |
| NG_023199.1:g.9101G>C , LRG_314:g.9101G>C | |
| NG_047169.1:g.378C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.63G>C | ENSP00000464056.2:p.Leu21Phe | |
| ENST00000697675.1:n.3011G>C | ||
| ENST00000697676.1:n.474G>C | ||
| ENST00000697677.1:n.1495G>C | ||
| ENST00000697678.1:n.316G>C | ||
| ENST00000697679.1:n.1488G>C | ||
| ENST00000697680.1:c.*1278G>C | ENSP00000513392.1:n.*1278G>C | |
| ENST00000697681.1:c.*1305G>C | ENSP00000513393.1:n.*1305G>C | |
| ENST00000697683.1:c.*1278G>C | ENSP00000513395.1:n.*1278G>C | |
| ENST00000697684.1:n.474G>C | ||
| ENST00000697685.1:c.*1268+1513G>C | ENSP00000513396.1:n.*1268+1513G>C | |
| ENST00000697686.1:c.63G>C | ENSP00000513397.1:p.Leu21Phe | |
| ENST00000697687.1:n.450+1513G>C | ||
| ENST00000697688.1:n.460G>C | ||
| ENST00000697689.1:c.*1107+1513G>C | ENSP00000513398.1:n.*1107+1513G>C | |
| ENST00000697690.1:c.414G>C | ENSP00000513399.1:p.Leu138Phe | |
| ENST00000697691.1:c.*386G>C | ENSP00000513400.1:n.*386G>C | |
| ENST00000697692.1:c.*426G>C | ENSP00000513401.1:n.*426G>C | |
| ENST00000697694.1:c.63G>C | ENSP00000513402.1:p.Leu21Phe | |
| ENST00000697695.1:n.1021G>C | ||
| ENST00000337432.9:c.414G>C MANE Select | ENSP00000336701.4:p.Leu138Phe | |
| ENST00000337432.8:c.414G>C | ENSP00000336701.4:p.Leu138Phe | |
| ENST00000413590.5:c.52G>C | ||
| ENST00000425173.5:c.210G>C | ENSP00000407282.1:p.Leu70Phe | |
| ENST00000461271.5:c.63G>C | ENSP00000464056.1:p.Leu21Phe | |
| ENST00000475762.5:c.*1117G>C | ENSP00000432421.1:n.*1117G>C | |
| ENST00000482007.5:c.404+1513G>C | ENSP00000433332.1:n.404+1513G>C | |
| ENST00000487525.5:c.404+1513G>C | ENSP00000431637.1:n.404+1513G>C | |
| ENST00000487921.5:n.326G>C | ||
| ENST00000583539.5:c.414G>C | ENSP00000463121.1:p.Leu138Phe | |
| ENST00000584617.5:c.136G>C | ||
| ENST00000622327.4:c.150G>C | ENSP00000482326.1:p.Leu50Phe | |
| NM_058216.2:c.414G>C | NP_478123.1:p.Leu138Phe | |
| NR_103872.1:n.475+1513G>C | ||
| XM_006722001.2:c.414G>C | XP_006722064.1:p.Leu138Phe | |
| XM_006722002.2:c.414G>C | XP_006722065.1:p.Leu138Phe | |
| XM_006722004.2:c.63G>C | XP_006722067.1:p.Leu21Phe | |
| XM_006722005.2:c.63G>C | XP_006722068.1:p.Leu21Phe | |
| XM_011525092.1:c.63G>C | XP_011523394.1:p.Leu21Phe | |
| XM_011525093.1:c.63G>C | XP_011523395.1:p.Leu21Phe | |
| XM_011525094.1:c.63G>C | XP_011523396.1:p.Leu21Phe | |
| XR_934513.1:n.487G>C | ||
| XR_934514.1:n.487G>C | ||
| XM_006722001.4:c.414G>C | XP_006722064.1:p.Leu138Phe | |
| XM_006722002.4:c.414G>C | XP_006722065.1:p.Leu138Phe | |
| XM_006722004.3:c.63G>C | XP_006722067.1:p.Leu21Phe | |
| XM_006722005.3:c.63G>C | XP_006722068.1:p.Leu21Phe | |
| XM_011525092.2:c.63G>C | XP_011523394.1:p.Leu21Phe | |
| XM_011525093.2:c.63G>C | XP_011523395.1:p.Leu21Phe | |
| XM_011525094.2:c.63G>C | XP_011523396.1:p.Leu21Phe | |
| XM_017024914.1:c.63G>C | XP_016880403.1:p.Leu21Phe | |
| XM_017024915.1:c.63G>C | XP_016880404.1:p.Leu21Phe | |
| XM_017024916.1:c.63G>C | XP_016880405.1:p.Leu21Phe | |
| XM_017024917.1:c.63G>C | XP_016880406.1:p.Leu21Phe | |
| XM_017024918.2:c.63G>C | XP_016880407.1:p.Leu21Phe | |
| XM_017024919.1:c.63G>C | XP_016880408.1:p.Leu21Phe | |
| XR_934513.3:n.918G>C | ||
| XR_934514.3:n.918G>C | ||
| NM_058216.3:c.414G>C MANE Select | NP_478123.1:p.Leu138Phe | |
| NR_103872.2:n.446+1513G>C |