Linked Data
dbSNP Id:
rs749542487
ExAC:
8:87683226 T / C
gnomAD v2:
8-87683226-T-C
gnomAD v3:
8-86670998-T-C
gnomAD v4:
8-86670998-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86670998T>C , CM000670.2:g.86670998T>C | GRCh38 |
| NC_000008.10:g.87683226T>C , CM000670.1:g.87683226T>C | GRCh37 |
| NC_000008.9:g.87752342T>C | NCBI36 |
| NG_016980.1:g.77678A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.439A>G MANE Select | ENSP00000316605.5:p.Lys147Glu | |
| ENST00000680314.1:n.200A>G | ||
| ENST00000681746.1:c.439A>G | ENSP00000505959.1:p.Lys147Glu | |
| ENST00000320005.5:c.439A>G | ENSP00000316605.5:p.Lys147Glu | |
| NM_019098.4:c.439A>G | NP_061971.3:p.Lys147Glu | |
| XM_011517138.1:c.25A>G | XP_011515440.1:p.Lys9Glu | |
| XM_011517138.2:c.25A>G | XP_011515440.1:p.Lys9Glu | |
| NM_019098.5:c.439A>G MANE Select | NP_061971.3:p.Lys147Glu |