Linked Data
ClinVar Variation Id:
359512
ClinVar RCV Id:
RCV000332893
dbSNP Id:
rs76015838
ExAC:
7:16128754 T / C
gnomAD v2:
7-16128754-T-C
gnomAD v3:
7-16089129-T-C
gnomAD v4:
7-16089129-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16089129T>C , CM000669.2:g.16089129T>C | GRCh38 |
| NC_000007.13:g.16128754T>C , CM000669.1:g.16128754T>C | GRCh37 |
| NC_000007.12:g.16095279T>C | NCBI36 |
| NG_032690.1:g.337194A>G | |
| NG_032690.2:g.337194A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407010.7:c.*2566A>G MANE Select | ENSP00000385478.2:n.*2566A>G | |
| ENST00000407010.6:c.3922A>G | ENSP00000385478.2:n.3922A>G | |
| NM_001101417.3:c.3772A>G | NP_001094887.1:n.3772A>G | |
| NM_001101426.3:c.3922A>G | NP_001094896.1:n.3922A>G | |
| XM_011515498.1:c.1251+126937A>G | XP_011513800.1:n.1251+126937A>G | |
| NM_001101426.4:c.*2566A>G MANE Select | NP_001094896.1:n.*2566A>G | |
| NM_001101417.4:c.*2566A>G | NP_001094887.1:n.*2566A>G | |
| NM_001368197.1:c.*2566A>G | NP_001355126.1:n.*2566A>G | |
| NR_160656.1:n.3987A>G |