Linked Data
ClinVar Variation Id:
181380
dbSNP Id:
rs730880901
gnomAD v2:
14-23893180-T-A
gnomAD v4:
14-23423971-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23423971T>A , CM000676.2:g.23423971T>A | GRCh38 |
| NC_000014.8:g.23893180T>A , CM000676.1:g.23893180T>A | GRCh37 |
| NC_000014.7:g.22963020T>A | NCBI36 |
| NG_007884.1:g.16691A>T , LRG_384:g.16691A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2858A>T MANE Select | ENSP00000347507.3:p.Asp953Val | |
| ENST00000355349.3:c.2858A>T | ENSP00000347507.3:p.Asp953Val | |
| NM_000257.3:c.2858A>T | NP_000248.2:p.Asp953Val | |
| XR_245686.3:n.2964A>T | ||
| XM_017021340.1:c.2858A>T | XP_016876829.1:p.Asp953Val | |
| NM_000257.4:c.2858A>T MANE Select | NP_000248.2:p.Asp953Val |