Linked Data
ClinVar Variation Id:
1640756
ClinVar RCV Id:
RCV002153149
dbSNP Id:
rs17880989
ExAC:
14:23313633 G / A
gnomAD v2:
14-23313633-G-A
gnomAD v3:
14-22844424-G-A
gnomAD v4:
14-22844424-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22844424G>A , CM000676.2:g.22844424G>A | GRCh38 |
| NC_000014.8:g.23313633G>A , CM000676.1:g.23313633G>A | GRCh37 |
| NC_000014.7:g.22383473G>A | NCBI36 |
| NG_046989.1:g.12892G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311852.11:c.1065G>A MANE Select | ENSP00000308208.6:p.Met355Ile | |
| ENST00000548162.2:c.1065G>A | ENSP00000506068.1:p.Met355Ile | |
| ENST00000680097.1:c.*380G>A | ENSP00000506631.1:n.*380G>A | |
| ENST00000680941.1:c.*463G>A | ENSP00000506378.1:n.*463G>A | |
| ENST00000311852.10:c.1065G>A | ENSP00000308208.6:p.Met355Ile | |
| ENST00000548162.1:n.1307G>A | ||
| NM_004995.3:c.1065G>A | NP_004986.1:p.Met355Ile | |
| NM_004995.4:c.1065G>A MANE Select | NP_004986.1:p.Met355Ile |