Linked Data
ClinVar Variation Id:
2072826
ClinVar RCV Id:
RCV002967400
dbSNP Id:
rs372271971
ExAC:
10:73122183 G / T
gnomAD v2:
10-73122183-G-T
gnomAD v4:
10-71362426-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71362426G>T , CM000672.2:g.71362426G>T | GRCh38 |
| NC_000010.10:g.73122183G>T , CM000672.1:g.73122183G>T | GRCh37 |
| NC_000010.9:g.72792189G>T | NCBI36 |
| NG_017066.1:g.48174G>T | |
| NG_017066.2:g.48168G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697843.1:n.2722G>T | ||
| ENST00000373189.6:c.1246G>T MANE Select | ENSP00000362285.5:p.Ala416Ser | |
| ENST00000479577.2:c.1012G>T | ENSP00000493995.1:p.Ala338Ser | |
| ENST00000642198.1:c.*818G>T | ENSP00000494827.1:n.*818G>T | |
| ENST00000642772.1:c.*94+6183G>T | ENSP00000495041.1:n.*94+6183G>T | |
| ENST00000643042.1:c.867G>T | ENSP00000496674.1:n.867G>T | |
| ENST00000643619.1:c.*829G>T | ENSP00000494378.1:n.*829G>T | |
| ENST00000643752.1:c.*572G>T | ENSP00000495000.1:n.*572G>T | |
| ENST00000644088.1:c.*567G>T | ENSP00000494066.1:n.*567G>T | |
| ENST00000644591.1:c.*572G>T | ENSP00000496664.1:n.*572G>T | |
| ENST00000644895.1:c.*99+6183G>T | ENSP00000493872.1:n.*99+6183G>T | |
| ENST00000645345.1:c.*818G>T | ENSP00000495859.1:n.*818G>T | |
| ENST00000647524.1:c.*829G>T | ENSP00000495077.1:n.*829G>T | |
| ENST00000373189.5:c.1246G>T | ENSP00000362285.5:p.Ala416Ser | |
| ENST00000469204.1:n.743G>T | ||
| NM_001174098.1:c.*475G>T | NP_001167569.1:n.*475G>T | |
| NM_018344.5:c.1246G>T | NP_060814.4:p.Ala416Ser | |
| NR_033413.1:n.1220G>T | ||
| NR_033414.1:n.993G>T | ||
| XM_006717910.2:c.1012G>T | XP_006717973.1:p.Ala338Ser | |
| NM_001363518.1:c.1012G>T | NP_001350447.1:p.Ala338Ser | |
| XM_017016377.2:c.808G>T | XP_016871866.1:p.Ala270Ser | |
| XM_017016378.2:c.628G>T | XP_016871867.1:p.Ala210Ser | |
| NM_018344.6:c.1246G>T MANE Select | NP_060814.4:p.Ala416Ser | |
| NM_001174098.2:c.*475G>T | NP_001167569.1:n.*475G>T | |
| NM_001363518.2:c.1012G>T | NP_001350447.1:p.Ala338Ser | |
| NR_033413.2:n.1214G>T | ||
| NR_033414.2:n.987G>T |