Linked Data
ClinVar Variation Id:
1399059
dbSNP Id:
rs756662728
ExAC:
9:139399481 G / A
gnomAD v2:
9-139399481-G-A
gnomAD v3:
9-136505029-G-A
gnomAD v4:
9-136505029-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136505029G>A , CM000671.2:g.136505029G>A | GRCh38 |
| NC_000009.11:g.139399481G>A , CM000671.1:g.139399481G>A | GRCh37 |
| NC_000009.10:g.138519302G>A | NCBI36 |
| NG_007458.1:g.45758C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2469C>T | ||
| ENST00000651671.1:c.4662C>T MANE Select | ENSP00000498587.1:p.Cys1554= | |
| ENST00000679595.1:c.4662C>T | ENSP00000506241.1:p.Cys1554= | |
| ENST00000680133.1:c.4548C>T | ENSP00000505319.1:p.Cys1516= | |
| ENST00000680218.1:c.4542C>T | ENSP00000505339.1:p.Cys1514= | |
| ENST00000680668.1:c.4548C>T | ENSP00000506336.1:p.Cys1516= | |
| ENST00000680778.1:c.2259C>T | ENSP00000506033.1:p.Cys753= | |
| ENST00000680924.1:c.*2062C>T | ENSP00000506031.1:n.*2062C>T | |
| ENST00000681135.1:c.*2271C>T | ENSP00000506636.1:n.*2271C>T | |
| ENST00000681298.1:n.1475C>T | ||
| ENST00000681454.1:c.*3898C>T | ENSP00000505763.1:n.*3898C>T | |
| ENST00000277541.6:c.4662C>T | ENSP00000277541.6:p.Cys1554= | |
| NM_017617.3:c.4662C>T | NP_060087.3:p.Cys1554= | |
| XM_011518717.1:c.3963C>T | XP_011517019.1:p.Cys1321= | |
| NM_017617.5:c.4662C>T MANE Select | NP_060087.3:p.Cys1554= | |
| XM_011518717.2:c.3939C>T | XP_011517019.2:p.Cys1313= |