Linked Data
ClinVar Variation Id:
1130545
ClinVar RCV Id:
RCV001464112
dbSNP Id:
rs1961223168
gnomAD v4:
16-14446901-C-T
MyVariant Identifiers:
chr16:g.14540758C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.14446901C>T , CM000678.2:g.14446901C>T | GRCh38 |
| NC_000016.9:g.14540758C>T , CM000678.1:g.14540758C>T | GRCh37 |
| NC_000016.8:g.14448259C>T | NCBI36 |
| NG_042871.1:g.188371G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697471.1:n.2302G>A | ||
| ENST00000697472.1:n.1892G>A | ||
| ENST00000697473.1:n.3453G>A | ||
| ENST00000697474.1:c.1851G>A | ENSP00000513329.1:p.Glu617= | |
| ENST00000437198.7:c.1851G>A MANE Select | ENSP00000387911.2:p.Glu617= | |
| ENST00000650990.1:c.1926G>A | ENSP00000498741.1:p.Glu642= | |
| ENST00000651300.1:c.*1658G>A | ENSP00000498294.1:n.*1658G>A | |
| ENST00000651348.1:c.*922G>A | ENSP00000498315.1:n.*922G>A | |
| ENST00000651760.1:c.3039G>A | ||
| ENST00000651865.1:c.1776G>A | ENSP00000498567.1:p.Glu592= | |
| ENST00000652051.1:c.*627G>A | ENSP00000498898.1:n.*627G>A | |
| ENST00000652066.1:c.1752G>A | ||
| ENST00000652541.1:c.*1683G>A | ENSP00000499206.1:n.*1683G>A | |
| ENST00000652727.1:c.1677G>A | ENSP00000498650.1:p.Glu559= | |
| ENST00000341484.11:c.1668G>A | ENSP00000345456.7:p.Glu556= | |
| ENST00000420015.6:c.1713G>A | ENSP00000410525.2:p.Glu571= | |
| ENST00000437198.6:c.1851G>A | ENSP00000387911.2:p.Glu617= | |
| ENST00000539279.5:c.1326G>A | ENSP00000444381.1:p.Glu442= | |
| NM_001134477.2:c.1668G>A | NP_001127949.1:p.Glu556= | |
| NM_001242992.1:c.1713G>A | NP_001229921.1:p.Glu571= | |
| NM_002582.3:c.1851G>A | NP_002573.1:p.Glu617= | |
| NM_002582.4:c.1851G>A MANE Select | NP_002573.1:p.Glu617= | |
| NM_001134477.3:c.1668G>A | NP_001127949.1:p.Glu556= | |
| NM_001242992.2:c.1713G>A | NP_001229921.1:p.Glu571= |