Linked Data
ClinVar Variation Id:
2319308
ClinVar RCV Id:
RCV004168175
dbSNP Id:
rs143372783
gnomAD v2:
11-58346953-G-T
gnomAD v3:
11-58579480-G-T
gnomAD v4:
11-58579480-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.58579480G>T , CM000673.2:g.58579480G>T | GRCh38 |
| NC_000011.9:g.58346953G>T , CM000673.1:g.58346953G>T | GRCh37 |
| NC_000011.8:g.58103529G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316059.7:c.199G>T (ZFP91) MANE Select | ENSP00000339030.5:p.Ala67Ser | |
| ENST00000316059.6:c.199G>T (ZFP91) | ENSP00000339030.5:p.Ala67Ser | |
| ENST00000389919.8:c.199G>T (ZFP91-CNTF) | ENSP00000455911.1:p.Ala67Ser | |
| NM_001197051.1:c.199G>T (ZFP91) | NP_001183980.1:p.Ala67Ser | |
| NM_053023.4:c.199G>T (ZFP91) | NP_444251.1:p.Ala67Ser | |
| NR_024091.1:n.367G>T (ZFP91-CNTF) | ||
| NM_053023.5:c.199G>T (ZFP91) MANE Select | NP_444251.1:p.Ala67Ser | |
| NM_001197051.2:c.199G>T (ZFP91) | NP_001183980.1:p.Ala67Ser |