Linked Data
dbSNP Id:
rs1815473178
gnomAD v3:
7-87520868-A-G
gnomAD v4:
7-87520868-A-G
MyVariant Identifiers:
chr7:g.87150184A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87520868A>G , CM000669.2:g.87520868A>G | GRCh38 |
| NC_000007.13:g.87150184A>G , CM000669.1:g.87150184A>G | GRCh37 |
| NC_000007.12:g.86988120A>G | NCBI36 |
| NG_011513.1:g.197381T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.2694T>C | ENSP00000265724.3:p.Thr898= | |
| ENST00000622132.5:c.2694T>C MANE Select | ENSP00000478255.1:p.Thr898= | |
| ENST00000265724.7:c.2694T>C | ENSP00000265724.3:p.Thr898= | |
| ENST00000483831.1:n.252T>C | ||
| ENST00000488737.6:n.336T>C | ||
| ENST00000496821.5:n.322T>C | ||
| ENST00000543898.5:c.2502T>C | ENSP00000444095.1:p.Thr834= | |
| ENST00000622132.4:c.2694T>C | ENSP00000478255.1:p.Thr898= | |
| NM_000927.4:c.2694T>C | NP_000918.2:p.Thr898= | |
| NM_001348944.1:c.2694T>C | NP_001335873.1:p.Thr898= | |
| NM_001348945.1:c.2904T>C | NP_001335874.1:p.Thr968= | |
| NM_001348946.1:c.2694T>C | NP_001335875.1:p.Thr898= | |
| NM_001348946.2:c.2694T>C MANE Select | NP_001335875.1:p.Thr898= | |
| NM_000927.5:c.2694T>C | NP_000918.2:p.Thr898= | |
| NM_001348944.2:c.2694T>C | NP_001335873.1:p.Thr898= | |
| NM_001348945.2:c.2904T>C | NP_001335874.1:p.Thr968= |