Linked Data
ClinVar Variation Id:
851600
dbSNP Id:
rs1319706073
gnomAD v2:
16-2096251-C-G
gnomAD v3:
16-2046250-C-G
gnomAD v4:
16-2046250-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046250C>G , CM000678.2:g.2046250C>G | GRCh38 |
| NC_000016.9:g.2096251C>G , CM000678.1:g.2096251C>G | GRCh37 |
| NC_000016.8:g.2036252C>G | NCBI36 |
| NG_005895.1:g.1945C>G , LRG_487:g.1945C>G | |
| NG_008412.1:g.6617G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651570.2:c.232G>C MANE Select | ENSP00000498421.1:p.Val78Leu | |
| ENST00000651583.1:c.187G>C | ENSP00000498821.1:p.Val63Leu | |
| ENST00000219066.5:c.256G>C | ENSP00000219066.1:p.Val86Leu | |
| ENST00000561841.1:c.152G>C | ||
| ENST00000566380.5:c.195G>C | ||
| ENST00000568513.5:c.173+30G>C | ||
| NM_002528.5:c.256G>C | NP_002519.1:p.Val86Leu | |
| XM_011522505.1:c.256G>C | XP_011520807.1:p.Val86Leu | |
| NM_001318193.1:c.256G>C | NP_001305122.1:p.Val86Leu | |
| NM_001318194.1:c.24+30G>C | NP_001305123.1:n.24+30G>C | |
| NM_002528.6:c.256G>C | NP_002519.1:p.Val86Leu | |
| XM_017023253.1:c.256G>C | XP_016878742.1:p.Val86Leu | |
| NM_001318193.2:c.232G>C | NP_001305122.2:p.Val78Leu | |
| NM_002528.7:c.232G>C MANE Select | NP_002519.2:p.Val78Leu | |
| NM_001318194.2:c.24+30G>C | NP_001305123.1:n.24+30G>C |