Linked Data
ClinVar Variation Id:
579405
ClinVar RCV Id:
RCV002334364
dbSNP Id:
rs746342893
ExAC:
9:139399480 C / T
gnomAD v2:
9-139399480-C-T
gnomAD v3:
9-136505028-C-T
gnomAD v4:
9-136505028-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136505028C>T , CM000671.2:g.136505028C>T | GRCh38 |
| NC_000009.11:g.139399480C>T , CM000671.1:g.139399480C>T | GRCh37 |
| NC_000009.10:g.138519301C>T | NCBI36 |
| NG_007458.1:g.45759G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645828.1:n.2470G>A | ||
| ENST00000651671.1:c.4663G>A MANE Select | ENSP00000498587.1:p.Glu1555Lys | |
| ENST00000679595.1:c.4663G>A | ENSP00000506241.1:p.Glu1555Lys | |
| ENST00000680133.1:c.4549G>A | ENSP00000505319.1:p.Glu1517Lys | |
| ENST00000680218.1:c.4543G>A | ENSP00000505339.1:p.Glu1515Lys | |
| ENST00000680668.1:c.4549G>A | ENSP00000506336.1:p.Glu1517Lys | |
| ENST00000680778.1:c.2260G>A | ENSP00000506033.1:p.Glu754Lys | |
| ENST00000680924.1:c.*2063G>A | ENSP00000506031.1:n.*2063G>A | |
| ENST00000681135.1:c.*2272G>A | ENSP00000506636.1:n.*2272G>A | |
| ENST00000681298.1:n.1476G>A | ||
| ENST00000681454.1:c.*3899G>A | ENSP00000505763.1:n.*3899G>A | |
| ENST00000277541.6:c.4663G>A | ENSP00000277541.6:p.Glu1555Lys | |
| NM_017617.3:c.4663G>A | NP_060087.3:p.Glu1555Lys | |
| XM_011518717.1:c.3964G>A | XP_011517019.1:p.Glu1322Lys | |
| NM_017617.5:c.4663G>A MANE Select | NP_060087.3:p.Glu1555Lys | |
| XM_011518717.2:c.3940G>A | XP_011517019.2:p.Glu1314Lys |