Linked Data
dbSNP Id:
rs760983899
ExAC:
9:6558606 C / T
gnomAD v2:
9-6558606-C-T
gnomAD v3:
9-6558606-C-T
gnomAD v4:
9-6558606-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558606C>T , CM000671.2:g.6558606C>T | GRCh38 |
| NC_000009.11:g.6558606C>T , CM000671.1:g.6558606C>T | GRCh37 |
| NC_000009.10:g.6548606C>T | NCBI36 |
| NG_016397.1:g.92087G>A , LRG_643:g.92087G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2005G>A MANE Select | ENSP00000370737.4:p.Glu669Lys | |
| ENST00000460457.2:n.165G>A | ||
| ENST00000638233.1:n.440G>A | ||
| ENST00000638661.1:c.205G>A | ENSP00000491369.1:p.Glu69Lys | |
| ENST00000638694.1:n.192G>A | ||
| ENST00000639318.1:c.205G>A | ENSP00000491932.1:p.Glu69Lys | |
| ENST00000639364.1:n.1705G>A | ||
| ENST00000639443.1:n.1573G>A | ||
| ENST00000639954.1:n.1713G>A | ||
| ENST00000640208.1:c.205G>A | ENSP00000491895.1:p.Glu69Lys | |
| ENST00000640505.1:n.244G>A | ||
| ENST00000640592.1:n.1888G>A | ||
| ENST00000321612.6:c.2005G>A | ENSP00000370737.3:p.Glu669Lys | |
| ENST00000460457.1:n.144G>A | ||
| NM_000170.2:c.2005G>A , LRG_643t1:c.2005G>A | NP_000161.2:p.Glu669Lys | |
| NM_000170.3:c.2005G>A MANE Select | NP_000161.2:p.Glu669Lys |