Linked Data
ClinVar Variation Id:
235600
dbSNP Id:
rs376170815
ExAC:
16:23403760 G / A
gnomAD v2:
16-23403760-G-A
gnomAD v3:
16-23392439-G-A
gnomAD v4:
16-23392439-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23392439G>A , CM000678.2:g.23392439G>A | GRCh38 |
| NC_000016.9:g.23403760G>A , CM000678.1:g.23403760G>A | GRCh37 |
| NC_000016.8:g.23311261G>A | NCBI36 |
| NG_021287.1:g.65753C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307149.10:c.2087C>T MANE Select | ENSP00000305442.5:p.Ala696Val | |
| ENST00000307149.9:c.2087C>T | ENSP00000305442.5:p.Ala696Val | |
| ENST00000561854.1:c.171C>T | ||
| ENST00000563164.1:c.145C>T | ||
| ENST00000566364.1:n.434C>T | ||
| ENST00000569635.1:n.60-2155C>T | ||
| NM_153603.3:c.2087C>T | NP_705831.1:p.Ala696Val | |
| XR_429680.1:n.2303C>T | ||
| XM_017023870.1:c.1892C>T | XP_016879359.1:p.Ala631Val | |
| XR_002957852.1:n.2308C>T | ||
| XR_429680.2:n.2308C>T | ||
| NM_153603.4:c.2087C>T MANE Select | NP_705831.1:p.Ala696Val |