Linked Data
ClinVar Variation Id:
561034
dbSNP Id:
rs186882839
gnomAD v2:
7-16131322-A-T
gnomAD v3:
7-16091697-A-T
gnomAD v4:
7-16091697-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16091697A>T , CM000669.2:g.16091697A>T | GRCh38 |
| NC_000007.13:g.16131322A>T , CM000669.1:g.16131322A>T | GRCh37 |
| NC_000007.12:g.16097847A>T | NCBI36 |
| NG_032690.1:g.334626T>A | |
| NG_032690.2:g.334626T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407010.7:c.1354T>A MANE Select | ENSP00000385478.2:p.Ter452Arg | |
| ENST00000675257.1:c.946T>A | ENSP00000501664.1:p.Ter316Arg | |
| ENST00000676325.1:c.1051T>A | ENSP00000502074.1:p.Ter351Arg | |
| ENST00000399310.3:c.1204T>A | ENSP00000382249.3:p.Ter402Arg | |
| ENST00000407010.6:c.1354T>A | ENSP00000385478.2:p.Ter452Arg | |
| NM_001101417.3:c.1204T>A | NP_001094887.1:p.Ter402Arg | |
| NM_001101426.3:c.1354T>A | NP_001094896.1:p.Ter452Arg | |
| XM_006715770.2:c.1105T>A | XP_006715833.1:p.Ter369Arg | |
| XM_011515498.1:c.1251+124369T>A | XP_011513800.1:n.1251+124369T>A | |
| XM_011515500.1:c.1249T>A | XP_011513802.1:p.Ter417Arg | |
| XM_011515502.1:c.1051T>A | XP_011513804.1:p.Ter351Arg | |
| XM_011515503.1:c.1051T>A | XP_011513805.1:p.Ter351Arg | |
| XM_011515504.1:c.1051T>A | XP_011513806.1:p.Ter351Arg | |
| XM_011515505.1:c.1051T>A | XP_011513807.1:p.Ter351Arg | |
| XM_011515506.1:c.1051T>A | XP_011513808.1:p.Ter351Arg | |
| XM_011515507.1:c.1051T>A | XP_011513809.1:p.Ter351Arg | |
| XM_011515508.1:c.1051T>A | XP_011513810.1:p.Ter351Arg | |
| XM_011515509.1:c.1051T>A | XP_011513811.1:p.Ter351Arg | |
| XM_006715770.3:c.1105T>A | XP_006715833.1:p.Ter369Arg | |
| XM_011515500.2:c.1249T>A | XP_011513802.1:p.Ter417Arg | |
| XM_011515508.2:c.1051T>A | XP_011513810.1:p.Ter351Arg | |
| XM_011515509.2:c.1051T>A | XP_011513811.1:p.Ter351Arg | |
| XM_017012577.1:c.718T>A | XP_016868066.1:p.Ter240Arg | |
| XM_017012578.1:c.718T>A | XP_016868067.1:p.Ter240Arg | |
| XM_024446909.1:c.1051T>A | XP_024302677.1:p.Ter351Arg | |
| XM_024446910.1:c.1051T>A | XP_024302678.1:p.Ter351Arg | |
| XM_024446911.1:c.946T>A | XP_024302679.1:p.Ter316Arg | |
| XR_001744868.1:n.1362T>A | ||
| NM_001101426.4:c.1354T>A MANE Select | NP_001094896.1:p.Ter452Arg | |
| NM_001101417.4:c.1204T>A | NP_001094887.1:p.Ter402Arg | |
| NM_001368197.1:c.1249T>A | NP_001355126.1:p.Ter417Arg | |
| NR_160656.1:n.1419T>A |