Linked Data
dbSNP Id:
rs954723479
gnomAD v2:
8-87751726-T-A
gnomAD v3:
8-86739498-T-A
gnomAD v4:
8-86739498-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739498T>A , CM000670.2:g.86739498T>A | GRCh38 |
| NC_000008.10:g.87751726T>A , CM000670.1:g.87751726T>A | GRCh37 |
| NC_000008.9:g.87820842T>A | NCBI36 |
| NG_016980.1:g.9178A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.211+157A>T MANE Select | ENSP00000316605.5:n.211+157A>T | |
| ENST00000681746.1:c.211+157A>T | ENSP00000505959.1:n.211+157A>T | |
| ENST00000320005.5:c.211+157A>T | ENSP00000316605.5:n.211+157A>T | |
| ENST00000519777.1:n.193+157A>T | ||
| NM_019098.4:c.211+157A>T | NP_061971.3:n.211+157A>T | |
| NM_019098.5:c.211+157A>T MANE Select | NP_061971.3:n.211+157A>T |