Linked Data
dbSNP Id:
rs1823847889
gnomAD v3:
8-86670966-T-A
gnomAD v4:
8-86670966-T-A
MyVariant Identifiers:
chr8:g.87683194T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86670966T>A , CM000670.2:g.86670966T>A | GRCh38 |
| NC_000008.10:g.87683194T>A , CM000670.1:g.87683194T>A | GRCh37 |
| NC_000008.9:g.87752310T>A | NCBI36 |
| NG_016980.1:g.77710A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.471A>T MANE Select | ENSP00000316605.5:p.Ser157= | |
| ENST00000680314.1:n.232A>T | ||
| ENST00000681746.1:c.471A>T | ENSP00000505959.1:p.Ser157= | |
| ENST00000320005.5:c.471A>T | ENSP00000316605.5:p.Ser157= | |
| NM_019098.4:c.471A>T | NP_061971.3:p.Ser157= | |
| XM_011517138.1:c.57A>T | XP_011515440.1:p.Ser19= | |
| XM_011517138.2:c.57A>T | XP_011515440.1:p.Ser19= | |
| NM_019098.5:c.471A>T MANE Select | NP_061971.3:p.Ser157= |