Linked Data
ClinVar Variation Id:
542670
dbSNP Id:
rs368440052
ExAC:
16:14540766 T / C
gnomAD v2:
16-14540766-T-C
gnomAD v3:
16-14446909-T-C
gnomAD v4:
16-14446909-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.14446909T>C , CM000678.2:g.14446909T>C | GRCh38 |
| NC_000016.9:g.14540766T>C , CM000678.1:g.14540766T>C | GRCh37 |
| NC_000016.8:g.14448267T>C | NCBI36 |
| NG_042871.1:g.188363A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697471.1:n.2294A>G | ||
| ENST00000697472.1:n.1884A>G | ||
| ENST00000697473.1:n.3445A>G | ||
| ENST00000697474.1:c.1843A>G | ENSP00000513329.1:p.Lys615Glu | |
| ENST00000437198.7:c.1843A>G MANE Select | ENSP00000387911.2:p.Lys615Glu | |
| ENST00000650990.1:c.1918A>G | ENSP00000498741.1:p.Lys640Glu | |
| ENST00000651300.1:c.*1650A>G | ENSP00000498294.1:n.*1650A>G | |
| ENST00000651348.1:c.*914A>G | ENSP00000498315.1:n.*914A>G | |
| ENST00000651760.1:c.3031A>G | ||
| ENST00000651865.1:c.1768A>G | ENSP00000498567.1:p.Lys590Glu | |
| ENST00000652051.1:c.*619A>G | ENSP00000498898.1:n.*619A>G | |
| ENST00000652066.1:c.1744A>G | ||
| ENST00000652541.1:c.*1675A>G | ENSP00000499206.1:n.*1675A>G | |
| ENST00000652727.1:c.1669A>G | ENSP00000498650.1:p.Lys557Glu | |
| ENST00000341484.11:c.1660A>G | ENSP00000345456.7:p.Lys554Glu | |
| ENST00000420015.6:c.1705A>G | ENSP00000410525.2:p.Lys569Glu | |
| ENST00000437198.6:c.1843A>G | ENSP00000387911.2:p.Lys615Glu | |
| ENST00000539279.5:c.1318A>G | ENSP00000444381.1:p.Lys440Glu | |
| NM_001134477.2:c.1660A>G | NP_001127949.1:p.Lys554Glu | |
| NM_001242992.1:c.1705A>G | NP_001229921.1:p.Lys569Glu | |
| NM_002582.3:c.1843A>G | NP_002573.1:p.Lys615Glu | |
| NM_002582.4:c.1843A>G MANE Select | NP_002573.1:p.Lys615Glu | |
| NM_001134477.3:c.1660A>G | NP_001127949.1:p.Lys554Glu | |
| NM_001242992.2:c.1705A>G | NP_001229921.1:p.Lys569Glu |