Linked Data
ClinVar Variation Id:
1942300
dbSNP Id:
rs1892313272
gnomAD v4:
14-23418308-C-A
MyVariant Identifiers:
chr14:g.23887517C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23418308C>A , CM000676.2:g.23418308C>A | GRCh38 |
| NC_000014.8:g.23887517C>A , CM000676.1:g.23887517C>A | GRCh37 |
| NC_000014.7:g.22957357C>A | NCBI36 |
| NG_007884.1:g.22354G>T , LRG_384:g.22354G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4071G>T MANE Select | ENSP00000347507.3:p.Leu1357= | |
| ENST00000355349.3:c.4071G>T | ENSP00000347507.3:p.Leu1357= | |
| NM_000257.3:c.4071G>T | NP_000248.2:p.Leu1357= | |
| XM_017021340.1:c.4071G>T | XP_016876829.1:p.Leu1357= | |
| NM_000257.4:c.4071G>T MANE Select | NP_000248.2:p.Leu1357= |