Linked Data
ClinVar Variation Id:
47869
dbSNP Id:
rs1796993
ExAC:
9:75315438 G / A
gnomAD v2:
9-75315438-G-A
gnomAD v3:
9-72700522-G-A
gnomAD v4:
9-72700522-G-A
PubMed:
PMID:16134132
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72700522G>A , CM000671.2:g.72700522G>A | GRCh38 |
| NC_000009.11:g.75315438G>A , CM000671.1:g.75315438G>A | GRCh37 |
| NC_000009.10:g.74505258G>A | NCBI36 |
| NG_008213.1:g.183722G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.241G>A MANE Select | ENSP00000297784.6:p.Glu81Lys | |
| ENST00000644967.1:c.-77+5808G>A | ENSP00000496159.1:n.-77+5808G>A | |
| ENST00000645053.1:c.-77+5808G>A | ENSP00000493838.1:n.-77+5808G>A | |
| ENST00000645208.2:c.241G>A | ENSP00000494684.1:p.Glu81Lys | |
| ENST00000645773.1:c.236+5808G>A | ENSP00000493698.1:n.236+5808G>A | |
| ENST00000645787.1:n.281G>A | ||
| ENST00000646244.1:n.691G>A | ||
| ENST00000646619.1:c.-77+5808G>A | ENSP00000493726.1:n.-77+5808G>A | |
| ENST00000650689.1:n.660+5808G>A | ||
| ENST00000651183.1:c.-77+5808G>A | ENSP00000498723.1:n.-77+5808G>A | |
| ENST00000297784.9:c.241G>A | ENSP00000297784.5:p.Glu81Lys | |
| ENST00000340019.4:c.241G>A | ENSP00000341433.3:p.Glu81Lys | |
| NM_138691.2:c.241G>A | NP_619636.2:p.Glu81Lys | |
| XM_011518213.1:c.829G>A | XP_011516515.1:p.Glu277Lys | |
| XM_017014256.1:c.244G>A | XP_016869745.1:p.Glu82Lys | |
| NM_138691.3:c.241G>A MANE Select | NP_619636.2:p.Glu81Lys |