Linked Data
ClinVar Variation Id:
662631
ClinVar RCV Id:
RCV000820315
dbSNP Id:
rs573153379
ExAC:
9:139412276 C / T
gnomAD v2:
9-139412276-C-T
gnomAD v3:
9-136517824-C-T
gnomAD v4:
9-136517824-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136517824C>T , CM000671.2:g.136517824C>T | GRCh38 |
| NC_000009.11:g.139412276C>T , CM000671.1:g.139412276C>T | GRCh37 |
| NC_000009.10:g.138532097C>T | NCBI36 |
| NG_007458.1:g.32963G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.1369G>A MANE Select | ENSP00000498587.1:p.Val457Ile | |
| ENST00000679595.1:c.1369G>A | ENSP00000506241.1:p.Val457Ile | |
| ENST00000680133.1:c.1369G>A | ENSP00000505319.1:p.Val457Ile | |
| ENST00000680218.1:c.1369G>A | ENSP00000505339.1:p.Val457Ile | |
| ENST00000680668.1:c.1369G>A | ENSP00000506336.1:p.Val457Ile | |
| ENST00000680924.1:c.1369G>A | ENSP00000506031.1:p.Val457Ile | |
| ENST00000681135.1:c.1369G>A | ENSP00000506636.1:p.Val457Ile | |
| ENST00000681454.1:c.*605G>A | ENSP00000505763.1:n.*605G>A | |
| ENST00000277541.6:c.1369G>A | ENSP00000277541.6:p.Val457Ile | |
| NM_017617.3:c.1369G>A | NP_060087.3:p.Val457Ile | |
| XM_011518717.1:c.670G>A | XP_011517019.1:p.Val224Ile | |
| NM_017617.5:c.1369G>A MANE Select | NP_060087.3:p.Val457Ile | |
| XM_011518717.2:c.646G>A | XP_011517019.2:p.Val216Ile |