Linked Data
ClinVar Variation Id:
861682
dbSNP Id:
rs1319706073
gnomAD v3:
16-2046250-C-T
gnomAD v4:
16-2046250-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046250C>T , CM000678.2:g.2046250C>T | GRCh38 |
| NC_000016.9:g.2096251C>T , CM000678.1:g.2096251C>T | GRCh37 |
| NC_000016.8:g.2036252C>T | NCBI36 |
| NG_005895.1:g.1945C>T , LRG_487:g.1945C>T | |
| NG_008412.1:g.6617G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651570.2:c.232G>A MANE Select | ENSP00000498421.1:p.Val78Ile | |
| ENST00000651583.1:c.187G>A | ENSP00000498821.1:p.Val63Ile | |
| ENST00000219066.5:c.256G>A | ENSP00000219066.1:p.Val86Ile | |
| ENST00000561841.1:c.152G>A | ||
| ENST00000566380.5:c.195G>A | ||
| ENST00000568513.5:c.173+30G>A | ||
| NM_002528.5:c.256G>A | NP_002519.1:p.Val86Ile | |
| XM_011522505.1:c.256G>A | XP_011520807.1:p.Val86Ile | |
| NM_001318193.1:c.256G>A | NP_001305122.1:p.Val86Ile | |
| NM_001318194.1:c.24+30G>A | NP_001305123.1:n.24+30G>A | |
| NM_002528.6:c.256G>A | NP_002519.1:p.Val86Ile | |
| XM_017023253.1:c.256G>A | XP_016878742.1:p.Val86Ile | |
| NM_001318193.2:c.232G>A | NP_001305122.2:p.Val78Ile | |
| NM_002528.7:c.232G>A MANE Select | NP_002519.2:p.Val78Ile | |
| NM_001318194.2:c.24+30G>A | NP_001305123.1:n.24+30G>A |