Linked Data
ClinVar Variation Id:
43965
ClinVar RCV Id:
RCV000036937
dbSNP Id:
rs397516591
gnomAD v2:
10-112541447-A-T
gnomAD v4:
10-110781689-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110781689A>T , CM000672.2:g.110781689A>T | GRCh38 |
| NC_000010.10:g.112541447A>T , CM000672.1:g.112541447A>T | GRCh37 |
| NC_000010.9:g.112531437A>T | NCBI36 |
| NG_021177.1:g.142293A>T , LRG_382:g.142293A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.1080A>T MANE Select | ENSP00000358532.3:p.Thr360= | |
| ENST00000369519.3:c.1080A>T | ENSP00000358532.3:p.Thr360= | |
| NM_001134363.2:c.1080A>T | NP_001127835.2:p.Thr360= | |
| XM_011539697.1:c.696A>T | XP_011537999.1:p.Thr232= | |
| XM_017016103.2:c.915A>T | XP_016871592.1:p.Thr305= | |
| XM_017016104.2:c.696A>T | XP_016871593.1:p.Thr232= | |
| NM_001134363.3:c.1080A>T MANE Select | NP_001127835.2:p.Thr360= |