Linked Data
ClinVar Variation Id:
910464
ClinVar RCV Id:
RCV001162257
dbSNP Id:
rs1427384549
gnomAD v2:
7-16128244-C-T
gnomAD v3:
7-16088619-C-T
gnomAD v4:
7-16088619-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16088619C>T , CM000669.2:g.16088619C>T | GRCh38 |
| NC_000007.13:g.16128244C>T , CM000669.1:g.16128244C>T | GRCh37 |
| NC_000007.12:g.16094769C>T | NCBI36 |
| NG_032690.1:g.337704G>A | |
| NG_032690.2:g.337704G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407010.7:c.*3076G>A MANE Select | ENSP00000385478.2:n.*3076G>A | |
| ENST00000407010.6:c.4432G>A | ENSP00000385478.2:n.4432G>A | |
| NM_001101417.3:c.4282G>A | NP_001094887.1:n.4282G>A | |
| NM_001101426.3:c.4432G>A | NP_001094896.1:n.4432G>A | |
| XM_011515498.1:c.1251+127447G>A | XP_011513800.1:n.1251+127447G>A | |
| NM_001101426.4:c.*3076G>A MANE Select | NP_001094896.1:n.*3076G>A | |
| NM_001101417.4:c.*3076G>A | NP_001094887.1:n.*3076G>A | |
| NM_001368197.1:c.*3076G>A | NP_001355126.1:n.*3076G>A | |
| NR_160656.1:n.4497G>A |