Linked Data
ClinVar Variation Id:
478610
dbSNP Id:
rs1555593879
gnomAD v3:
17-58695170-G-A
gnomAD v4:
17-58695170-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58695170G>A , CM000679.2:g.58695170G>A | GRCh38 |
| NC_000017.10:g.56772531G>A , CM000679.1:g.56772531G>A | GRCh37 |
| NC_000017.9:g.54127530G>A | NCBI36 |
| NG_023199.1:g.7569G>A , LRG_314:g.7569G>A | |
| NG_047169.1:g.1910C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.34G>A | ENSP00000464056.2:p.Val12Ile | |
| ENST00000697675.1:n.1479G>A | ||
| ENST00000697676.1:n.445G>A | ||
| ENST00000697677.1:n.1466G>A | ||
| ENST00000697678.1:n.287G>A | ||
| ENST00000697679.1:n.1459G>A | ||
| ENST00000697680.1:c.*1249G>A | ENSP00000513392.1:n.*1249G>A | |
| ENST00000697681.1:c.*1249G>A | ENSP00000513393.1:n.*1249G>A | |
| ENST00000697683.1:c.*1249G>A | ENSP00000513395.1:n.*1249G>A | |
| ENST00000697684.1:n.445G>A | ||
| ENST00000697685.1:c.*1249G>A | ENSP00000513396.1:n.*1249G>A | |
| ENST00000697686.1:c.34G>A | ENSP00000513397.1:p.Val12Ile | |
| ENST00000697687.1:n.431G>A | ||
| ENST00000697688.1:n.431G>A | ||
| ENST00000697689.1:c.*1088G>A | ENSP00000513398.1:n.*1088G>A | |
| ENST00000697690.1:c.385G>A | ENSP00000513399.1:p.Val129Ile | |
| ENST00000697691.1:c.*357G>A | ENSP00000513400.1:n.*357G>A | |
| ENST00000697692.1:c.*397G>A | ENSP00000513401.1:n.*397G>A | |
| ENST00000697693.1:n.1160G>A | ||
| ENST00000697694.1:c.34G>A | ENSP00000513402.1:p.Val12Ile | |
| ENST00000697695.1:n.992G>A | ||
| ENST00000337432.9:c.385G>A MANE Select | ENSP00000336701.4:p.Val129Ile | |
| ENST00000337432.8:c.385G>A | ENSP00000336701.4:p.Val129Ile | |
| ENST00000413590.5:c.23G>A | ||
| ENST00000421782.3:c.385G>A | ENSP00000391450.2:p.Val129Ile | |
| ENST00000425173.5:c.181G>A | ENSP00000407282.1:p.Val61Ile | |
| ENST00000461271.5:c.34G>A | ENSP00000464056.1:p.Val12Ile | |
| ENST00000475762.5:c.*1088G>A | ENSP00000432421.1:n.*1088G>A | |
| ENST00000482007.5:c.385G>A | ENSP00000433332.1:p.Val129Ile | |
| ENST00000486827.1:c.*1249G>A | ENSP00000436761.1:n.*1249G>A | |
| ENST00000487525.5:c.385G>A | ENSP00000431637.1:p.Val129Ile | |
| ENST00000487921.5:n.297G>A | ||
| ENST00000583539.5:c.385G>A | ENSP00000463121.1:p.Val129Ile | |
| ENST00000584617.5:c.127-1523G>A | ||
| ENST00000622327.4:c.121G>A | ENSP00000482326.1:p.Val41Ile | |
| NM_002876.3:c.385G>A | NP_002867.1:p.Val129Ile | |
| NM_058216.2:c.385G>A | NP_478123.1:p.Val129Ile | |
| NR_103872.1:n.456G>A | ||
| NR_103873.1:n.353G>A | ||
| XM_006722001.2:c.385G>A | XP_006722064.1:p.Val129Ile | |
| XM_006722002.2:c.385G>A | XP_006722065.1:p.Val129Ile | |
| XM_006722004.2:c.34G>A | XP_006722067.1:p.Val12Ile | |
| XM_006722005.2:c.34G>A | XP_006722068.1:p.Val12Ile | |
| XM_011525092.1:c.34G>A | XP_011523394.1:p.Val12Ile | |
| XM_011525093.1:c.34G>A | XP_011523395.1:p.Val12Ile | |
| XM_011525094.1:c.34G>A | XP_011523396.1:p.Val12Ile | |
| XR_934513.1:n.458G>A | ||
| XR_934514.1:n.458G>A | ||
| XM_006722001.4:c.385G>A | XP_006722064.1:p.Val129Ile | |
| XM_006722002.4:c.385G>A | XP_006722065.1:p.Val129Ile | |
| XM_006722004.3:c.34G>A | XP_006722067.1:p.Val12Ile | |
| XM_006722005.3:c.34G>A | XP_006722068.1:p.Val12Ile | |
| XM_011525092.2:c.34G>A | XP_011523394.1:p.Val12Ile | |
| XM_011525093.2:c.34G>A | XP_011523395.1:p.Val12Ile | |
| XM_011525094.2:c.34G>A | XP_011523396.1:p.Val12Ile | |
| XM_017024914.1:c.34G>A | XP_016880403.1:p.Val12Ile | |
| XM_017024915.1:c.34G>A | XP_016880404.1:p.Val12Ile | |
| XM_017024916.1:c.34G>A | XP_016880405.1:p.Val12Ile | |
| XM_017024917.1:c.34G>A | XP_016880406.1:p.Val12Ile | |
| XM_017024918.2:c.34G>A | XP_016880407.1:p.Val12Ile | |
| XM_017024919.1:c.34G>A | XP_016880408.1:p.Val12Ile | |
| XR_934513.3:n.889G>A | ||
| XR_934514.3:n.889G>A | ||
| NM_058216.3:c.385G>A MANE Select | NP_478123.1:p.Val129Ile | |
| NR_103872.2:n.427G>A | ||
| NM_002876.4:c.385G>A | NP_002867.1:p.Val129Ile |