Linked Data
ClinVar Variation Id:
44019
ClinVar RCV Id:
RCV000036994
dbSNP Id:
rs397516620
gnomAD v4:
10-110781074-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110781074T>C , CM000672.2:g.110781074T>C | GRCh38 |
| NC_000010.10:g.112540832T>C , CM000672.1:g.112540832T>C | GRCh37 |
| NC_000010.9:g.112530822T>C | NCBI36 |
| NG_021177.1:g.141678T>C , LRG_382:g.141678T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.465T>C MANE Select | ENSP00000358532.3:p.His155= | |
| ENST00000369519.3:c.465T>C | ENSP00000358532.3:p.His155= | |
| NM_001134363.2:c.465T>C | NP_001127835.2:p.His155= | |
| XM_011539697.1:c.81T>C | XP_011537999.1:p.His27= | |
| XM_017016103.2:c.300T>C | XP_016871592.1:p.His100= | |
| XM_017016104.2:c.81T>C | XP_016871593.1:p.His27= | |
| NM_001134363.3:c.465T>C MANE Select | NP_001127835.2:p.His155= |