Linked Data
dbSNP Id:
rs769966310
gnomAD v3:
8-86670996-C-T
gnomAD v4:
8-86670996-C-T
MyVariant Identifiers:
chr8:g.87683224C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86670996C>T , CM000670.2:g.86670996C>T | GRCh38 |
| NC_000008.10:g.87683224C>T , CM000670.1:g.87683224C>T | GRCh37 |
| NC_000008.9:g.87752340C>T | NCBI36 |
| NG_016980.1:g.77680G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.441G>A MANE Select | ENSP00000316605.5:p.Lys147= | |
| ENST00000680314.1:n.202G>A | ||
| ENST00000681746.1:c.441G>A | ENSP00000505959.1:p.Lys147= | |
| ENST00000320005.5:c.441G>A | ENSP00000316605.5:p.Lys147= | |
| NM_019098.4:c.441G>A | NP_061971.3:p.Lys147= | |
| XM_011517138.1:c.27G>A | XP_011515440.1:p.Lys9= | |
| XM_011517138.2:c.27G>A | XP_011515440.1:p.Lys9= | |
| NM_019098.5:c.441G>A MANE Select | NP_061971.3:p.Lys147= |