Linked Data
ClinVar Variation Id:
268
ClinVar RCV Id:
RCV000000292
RCV000211851
RCV000183865
RCV000490927
RCV000619200
RCV001256960
RCV003407245
dbSNP Id:
rs267607003
gnomAD v4:
10-110812310-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812310C>T , CM000672.2:g.110812310C>T | GRCh38 |
| NC_000010.10:g.112572068C>T , CM000672.1:g.112572068C>T | GRCh37 |
| NC_000010.9:g.112562058C>T | NCBI36 |
| NG_021177.1:g.172914C>T , LRG_382:g.172914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.1913C>T MANE Select | ENSP00000358532.3:p.Pro638Leu | |
| ENST00000369519.3:c.1913C>T | ENSP00000358532.3:p.Pro638Leu | |
| NM_001134363.2:c.1913C>T | NP_001127835.2:p.Pro638Leu | |
| XM_011539697.1:c.1529C>T | XP_011537999.1:p.Pro510Leu | |
| XM_017016103.2:c.1748C>T | XP_016871592.1:p.Pro583Leu | |
| XM_017016104.2:c.1529C>T | XP_016871593.1:p.Pro510Leu | |
| NM_001134363.3:c.1913C>T MANE Select | NP_001127835.2:p.Pro638Leu |