Linked Data
ClinVar Variation Id:
127537
ClinVar RCV Id:
RCV000115347
RCV000224234
RCV000197543
RCV000709095
RCV001354572
RCV000563479
RCV003492472
RCV003935098
dbSNP Id:
rs138629441
ExAC:
9:98009786 C / T
gnomAD v2:
9-98009786-C-T
gnomAD v3:
9-95247504-C-T
gnomAD v4:
9-95247504-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95247504C>T , CM000671.2:g.95247504C>T | GRCh38 |
| NC_000009.11:g.98009786C>T , CM000671.1:g.98009786C>T | GRCh37 |
| NC_000009.10:g.97049607C>T | NCBI36 |
| NG_011707.1:g.75206G>A , LRG_497:g.75206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696261.1:n.424G>A | ||
| ENST00000696262.1:c.178G>A | ENSP00000512510.1:p.Val60Ile | |
| ENST00000289081.8:c.178G>A MANE Select | ENSP00000289081.3:p.Val60Ile | |
| ENST00000375305.6:c.178G>A | ENSP00000364454.1:p.Val60Ile | |
| ENST00000490972.7:c.178G>A | ENSP00000479931.1:p.Val60Ile | |
| ENST00000636777.1:n.236G>A | ||
| ENST00000647778.1:c.178G>A | ENSP00000498125.1:p.Val60Ile | |
| ENST00000647882.1:c.178G>A | ENSP00000497025.1:p.Val60Ile | |
| ENST00000648415.1:n.1816G>A | ||
| ENST00000649334.1:c.178G>A | ENSP00000497735.1:p.Val60Ile | |
| ENST00000649519.1:c.178G>A | ENSP00000497630.1:p.Val60Ile | |
| ENST00000649872.1:c.178G>A | ENSP00000497195.1:p.Val60Ile | |
| ENST00000650176.1:n.358G>A | ||
| ENST00000289081.7:c.178G>A | ENSP00000289081.3:p.Val60Ile | |
| ENST00000375305.5:c.178G>A | ENSP00000364454.1:p.Val60Ile | |
| ENST00000433829.1:c.178G>A | ENSP00000406908.1:p.Val60Ile | |
| ENST00000474949.1:n.440G>A | ||
| ENST00000490972.6:c.178G>A | ENSP00000479931.1:p.Val60Ile | |
| NM_000136.2:c.178G>A , LRG_497t1:c.178G>A | NP_000127.2:p.Val60Ile | |
| NM_001243743.1:c.178G>A | NP_001230672.1:p.Val60Ile | |
| NM_001243744.1:c.178G>A | NP_001230673.1:p.Val60Ile | |
| XM_006717001.1:c.178G>A | XP_006717064.1:p.Val60Ile | |
| XM_006717002.2:c.178G>A | XP_006717065.1:p.Val60Ile | |
| XM_006717004.2:c.178G>A | XP_006717067.1:p.Val60Ile | |
| XM_011518365.1:c.178G>A | XP_011516667.1:p.Val60Ile | |
| XM_011518366.1:c.178G>A | XP_011516668.1:p.Val60Ile | |
| XM_011518367.1:c.-424G>A | XP_011516669.1:n.-424G>A | |
| XM_006717001.3:c.178G>A | XP_006717064.1:p.Val60Ile | |
| XM_006717002.4:c.178G>A | XP_006717065.1:p.Val60Ile | |
| XM_006717004.4:c.178G>A | XP_006717067.1:p.Val60Ile | |
| XM_011518365.3:c.178G>A | XP_011516667.1:p.Val60Ile | |
| XM_011518366.3:c.178G>A | XP_011516668.1:p.Val60Ile | |
| XM_011518367.2:c.-424G>A | XP_011516669.1:n.-424G>A | |
| XM_017014452.2:c.-424G>A | XP_016869941.1:n.-424G>A | |
| XM_017014453.1:c.-424G>A | XP_016869942.1:n.-424G>A | |
| XM_017014454.1:c.-424G>A | XP_016869943.1:n.-424G>A | |
| XM_024447451.1:c.178G>A | XP_024303219.1:p.Val60Ile | |
| NM_000136.3:c.178G>A MANE Select | NP_000127.2:p.Val60Ile | |
| NM_001243743.2:c.178G>A | NP_001230672.1:p.Val60Ile | |
| NM_001243744.2:c.178G>A | NP_001230673.1:p.Val60Ile |