Linked Data
dbSNP Id:
rs10808846
gnomAD v2:
8-82393166-G-T
gnomAD v3:
8-81480931-G-T
gnomAD v4:
8-81480931-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81480931G>T , CM000670.2:g.81480931G>T | GRCh38 |
| NC_000008.10:g.82393166G>T , CM000670.1:g.82393166G>T | GRCh37 |
| NC_000008.9:g.82555721G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256104.5:c.74-333C>A MANE Select | ENSP00000256104.4:n.74-333C>A | |
| ENST00000256104.4:c.74-333C>A | ENSP00000256104.4:n.74-333C>A | |
| ENST00000518669.5:n.143-467C>A | ||
| ENST00000522659.1:c.70-333C>A | ENSP00000428385.1:n.70-333C>A | |
| NM_001442.2:c.74-333C>A | NP_001433.1:n.74-333C>A | |
| XR_001745980.1:n.514+18957G>T | ||
| NM_001442.3:c.74-333C>A MANE Select | NP_001433.1:n.74-333C>A |