Linked Data
ClinVar Variation Id:
184581
ClinVar RCV Id:
RCV000163858
RCV000709515
RCV000204484
RCV001640217
RCV001798579
RCV001356136
RCV001818371
dbSNP Id:
rs376402418
ExAC:
17:56798139 T / A
gnomAD v2:
17-56798139-T-A
gnomAD v3:
17-58720778-T-A
gnomAD v4:
17-58720778-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58720778T>A , CM000679.2:g.58720778T>A | GRCh38 |
| NC_000017.10:g.56798139T>A , CM000679.1:g.56798139T>A | GRCh37 |
| NC_000017.9:g.54153138T>A | NCBI36 |
| NG_023199.1:g.33177T>A , LRG_314:g.33177T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.519T>A | ENSP00000464056.2:p.Ile173= | |
| ENST00000697678.1:n.772T>A | ||
| ENST00000697679.1:n.1944T>A | ||
| ENST00000697680.1:c.*1834T>A | ENSP00000513392.1:n.*1834T>A | |
| ENST00000697681.1:c.*2031T>A | ENSP00000513393.1:n.*2031T>A | |
| ENST00000697683.1:c.*1734T>A | ENSP00000513395.1:n.*1734T>A | |
| ENST00000697684.1:n.930T>A | ||
| ENST00000697685.1:c.*1567T>A | ENSP00000513396.1:n.*1567T>A | |
| ENST00000697686.1:c.519T>A | ENSP00000513397.1:p.Ile173= | |
| ENST00000697687.1:n.749T>A | ||
| ENST00000697688.1:n.916T>A | ||
| ENST00000697689.1:c.*1406T>A | ENSP00000513398.1:n.*1406T>A | |
| ENST00000697690.1:c.870T>A | ENSP00000513399.1:p.Ile290= | |
| ENST00000697691.1:c.*842T>A | ENSP00000513400.1:n.*842T>A | |
| ENST00000697692.1:c.*882T>A | ENSP00000513401.1:n.*882T>A | |
| ENST00000697694.1:c.519T>A | ENSP00000513402.1:p.Ile173= | |
| ENST00000697695.1:n.1477T>A | ||
| ENST00000337432.9:c.870T>A MANE Select | ENSP00000336701.4:p.Ile290= | |
| ENST00000337432.8:c.870T>A | ENSP00000336701.4:p.Ile290= | |
| ENST00000413590.5:c.508T>A | ||
| ENST00000475762.5:c.*1541-3262T>A | ENSP00000432421.1:n.*1541-3262T>A | |
| ENST00000482007.5:c.*298T>A | ENSP00000433332.1:n.*298T>A | |
| ENST00000487525.5:c.*443T>A | ENSP00000431637.1:n.*443T>A | |
| ENST00000578151.1:n.205T>A | ||
| ENST00000581221.5:n.385T>A | ||
| ENST00000583539.5:c.870T>A | ENSP00000463121.1:p.Ile290= | |
| ENST00000584617.5:c.592T>A | ||
| ENST00000584804.1:c.165T>A | ENSP00000463658.1:p.Ile55= | |
| NM_058216.2:c.870T>A | NP_478123.1:p.Ile290= | |
| NR_103872.1:n.774T>A | ||
| XM_006722001.2:c.870T>A | XP_006722064.1:p.Ile290= | |
| XM_006722002.2:c.870T>A | XP_006722065.1:p.Ile290= | |
| XM_006722004.2:c.519T>A | XP_006722067.1:p.Ile173= | |
| XM_006722005.2:c.519T>A | XP_006722068.1:p.Ile173= | |
| XM_011525092.1:c.519T>A | XP_011523394.1:p.Ile173= | |
| XM_011525093.1:c.519T>A | XP_011523395.1:p.Ile173= | |
| XM_011525094.1:c.519T>A | XP_011523396.1:p.Ile173= | |
| XR_934513.1:n.1088T>A | ||
| XR_934514.1:n.1088T>A | ||
| XM_006722001.4:c.870T>A | XP_006722064.1:p.Ile290= | |
| XM_006722002.4:c.870T>A | XP_006722065.1:p.Ile290= | |
| XM_006722004.3:c.519T>A | XP_006722067.1:p.Ile173= | |
| XM_006722005.3:c.519T>A | XP_006722068.1:p.Ile173= | |
| XM_011525092.2:c.519T>A | XP_011523394.1:p.Ile173= | |
| XM_011525093.2:c.519T>A | XP_011523395.1:p.Ile173= | |
| XM_011525094.2:c.519T>A | XP_011523396.1:p.Ile173= | |
| XM_017024914.1:c.519T>A | XP_016880403.1:p.Ile173= | |
| XM_017024915.1:c.519T>A | XP_016880404.1:p.Ile173= | |
| XM_017024916.1:c.519T>A | XP_016880405.1:p.Ile173= | |
| XM_017024917.1:c.519T>A | XP_016880406.1:p.Ile173= | |
| XM_017024918.2:c.519T>A | XP_016880407.1:p.Ile173= | |
| XM_017024919.1:c.519T>A | XP_016880408.1:p.Ile173= | |
| XR_934513.3:n.1519T>A | ||
| XR_934514.3:n.1519T>A | ||
| NM_058216.3:c.870T>A MANE Select | NP_478123.1:p.Ile290= | |
| NR_103872.2:n.745T>A |