Linked Data
ClinVar Variation Id:
134940
dbSNP Id:
rs2229968
ExAC:
9:139399132 C / T
gnomAD v2:
9-139399132-C-T
gnomAD v3:
9-136504680-C-T
gnomAD v4:
9-136504680-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504680C>T , CM000671.2:g.136504680C>T | GRCh38 |
| NC_000009.11:g.139399132C>T , CM000671.1:g.139399132C>T | GRCh37 |
| NC_000009.10:g.138518953C>T | NCBI36 |
| NG_007458.1:g.46107G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2818G>A | ||
| ENST00000651671.1:c.5011G>A MANE Select | ENSP00000498587.1:p.Val1671Ile | |
| ENST00000679595.1:c.5011G>A | ENSP00000506241.1:p.Val1671Ile | |
| ENST00000680133.1:c.4897G>A | ENSP00000505319.1:p.Val1633Ile | |
| ENST00000680218.1:c.4891G>A | ENSP00000505339.1:p.Val1631Ile | |
| ENST00000680668.1:c.4897G>A | ENSP00000506336.1:p.Val1633Ile | |
| ENST00000680778.1:c.2608G>A | ENSP00000506033.1:p.Val870Ile | |
| ENST00000680924.1:c.*2411G>A | ENSP00000506031.1:n.*2411G>A | |
| ENST00000681135.1:c.*2620G>A | ENSP00000506636.1:n.*2620G>A | |
| ENST00000681298.1:n.1824G>A | ||
| ENST00000681454.1:c.*4247G>A | ENSP00000505763.1:n.*4247G>A | |
| ENST00000277541.6:c.5011G>A | ENSP00000277541.6:p.Val1671Ile | |
| ENST00000494783.1:n.166G>A | ||
| NM_017617.3:c.5011G>A | NP_060087.3:p.Val1671Ile | |
| XM_011518717.1:c.4312G>A | XP_011517019.1:p.Val1438Ile | |
| NM_017617.5:c.5011G>A MANE Select | NP_060087.3:p.Val1671Ile | |
| XM_011518717.2:c.4288G>A | XP_011517019.2:p.Val1430Ile |