Linked Data
ClinVar Variation Id:
2996169
ClinVar RCV Id:
RCV003856320
gnomAD v4:
4-41745927-G-T
MyVariant Identifiers:
chr4:g.41747944G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745927G>T , CM000666.2:g.41745927G>T | GRCh38 |
| NC_000004.11:g.41747944G>T , CM000666.1:g.41747944G>T | GRCh37 |
| NC_000004.10:g.41442701G>T | NCBI36 |
| NG_008243.1:g.8044C>A , LRG_513:g.8044C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.825C>A MANE Select | ENSP00000226382.2:p.Pro275= | |
| ENST00000226382.3:c.825C>A | ENSP00000226382.2:p.Pro275= | |
| NM_003924.3:c.825C>A , LRG_513t1:c.825C>A | NP_003915.2:p.Pro275= | |
| NM_003924.4:c.825C>A MANE Select | NP_003915.2:p.Pro275= |