Linked Data
ClinVar Variation Id:
649179
ClinVar RCV Id:
RCV002345803
dbSNP Id:
rs745986873
ExAC:
16:2096139 G / A
gnomAD v2:
16-2096139-G-A
gnomAD v3:
16-2046138-G-A
gnomAD v4:
16-2046138-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046138G>A , CM000678.2:g.2046138G>A | GRCh38 |
| NC_000016.9:g.2096139G>A , CM000678.1:g.2096139G>A | GRCh37 |
| NC_000016.8:g.2036140G>A | NCBI36 |
| NG_005895.1:g.1833G>A , LRG_487:g.1833G>A | |
| NG_008412.1:g.6729C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651522.1:c.53C>T | ENSP00000498290.1:p.Ala18Val | |
| ENST00000651570.2:c.344C>T MANE Select | ENSP00000498421.1:p.Ala115Val | |
| ENST00000651583.1:c.299C>T | ENSP00000498821.1:p.Ala100Val | |
| ENST00000219066.5:c.368C>T | ENSP00000219066.1:p.Ala123Val | |
| ENST00000561841.1:c.264C>T | ||
| ENST00000562120.1:n.77C>T | ||
| ENST00000566380.5:c.307C>T | ||
| ENST00000568513.5:c.173+142C>T | ||
| NM_002528.5:c.368C>T | NP_002519.1:p.Ala123Val | |
| XM_011522505.1:c.368C>T | XP_011520807.1:p.Ala123Val | |
| NM_001318193.1:c.368C>T | NP_001305122.1:p.Ala123Val | |
| NM_001318194.1:c.24+142C>T | NP_001305123.1:n.24+142C>T | |
| NM_002528.6:c.368C>T | NP_002519.1:p.Ala123Val | |
| XM_017023253.1:c.368C>T | XP_016878742.1:p.Ala123Val | |
| NM_001318193.2:c.344C>T | NP_001305122.2:p.Ala115Val | |
| NM_002528.7:c.344C>T MANE Select | NP_002519.2:p.Ala115Val | |
| NM_001318194.2:c.24+142C>T | NP_001305123.1:n.24+142C>T |