Linked Data
ClinVar Variation Id:
1635514
dbSNP Id:
rs730880793
gnomAD v4:
14-23417670-G-T
MyVariant Identifiers:
chr14:g.23886879G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23417670G>T , CM000676.2:g.23417670G>T | GRCh38 |
| NC_000014.8:g.23886879G>T , CM000676.1:g.23886879G>T | GRCh37 |
| NC_000014.7:g.22956719G>T | NCBI36 |
| NG_007884.1:g.22992C>A , LRG_384:g.22992C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4186C>A MANE Select | ENSP00000347507.3:p.Arg1396= | |
| ENST00000355349.3:c.4186C>A | ENSP00000347507.3:p.Arg1396= | |
| NM_000257.3:c.4186C>A | NP_000248.2:p.Arg1396= | |
| XM_017021340.1:c.4186C>A | XP_016876829.1:p.Arg1396= | |
| NM_000257.4:c.4186C>A MANE Select | NP_000248.2:p.Arg1396= |