Linked Data
ClinVar Variation Id:
379517
dbSNP Id:
rs550942448
gnomAD v2:
10-112572224-C-T
gnomAD v3:
10-110812466-C-T
gnomAD v4:
10-110812466-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812466C>T , CM000672.2:g.110812466C>T | GRCh38 |
| NC_000010.10:g.112572224C>T , CM000672.1:g.112572224C>T | GRCh37 |
| NC_000010.9:g.112562214C>T | NCBI36 |
| NG_021177.1:g.173070C>T , LRG_382:g.173070C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.2069C>T MANE Select | ENSP00000358532.3:p.Pro690Leu | |
| ENST00000369519.3:c.2069C>T | ENSP00000358532.3:p.Pro690Leu | |
| NM_001134363.2:c.2069C>T | NP_001127835.2:p.Pro690Leu | |
| XM_011539697.1:c.1685C>T | XP_011537999.1:p.Pro562Leu | |
| XM_017016103.2:c.1904C>T | XP_016871592.1:p.Pro635Leu | |
| XM_017016104.2:c.1685C>T | XP_016871593.1:p.Pro562Leu | |
| NM_001134363.3:c.2069C>T MANE Select | NP_001127835.2:p.Pro690Leu |