Linked Data
ClinVar Variation Id:
2779277
ClinVar RCV Id:
RCV003598222
gnomAD v4:
10-110781062-G-C
MyVariant Identifiers:
chr10:g.112540820G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110781062G>C , CM000672.2:g.110781062G>C | GRCh38 |
| NC_000010.10:g.112540820G>C , CM000672.1:g.112540820G>C | GRCh37 |
| NC_000010.9:g.112530810G>C | NCBI36 |
| NG_021177.1:g.141666G>C , LRG_382:g.141666G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369519.4:c.453G>C MANE Select | ENSP00000358532.3:p.Gly151= | |
| ENST00000369519.3:c.453G>C | ENSP00000358532.3:p.Gly151= | |
| NM_001134363.2:c.453G>C | NP_001127835.2:p.Gly151= | |
| XM_011539697.1:c.69G>C | XP_011537999.1:p.Gly23= | |
| XM_017016103.2:c.288G>C | XP_016871592.1:p.Gly96= | |
| XM_017016104.2:c.69G>C | XP_016871593.1:p.Gly23= | |
| NM_001134363.3:c.453G>C MANE Select | NP_001127835.2:p.Gly151= |