Linked Data
ClinVar Variation Id:
1474632
ClinVar RCV Id:
RCV001973524
dbSNP Id:
rs868474754
gnomAD v4:
8-10622722-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622722C>A , CM000670.2:g.10622722C>A | GRCh38 |
| NC_000008.10:g.10480232C>A , CM000670.1:g.10480232C>A | GRCh37 |
| NC_000008.9:g.10517642C>A | NCBI36 |
| NG_028035.1:g.37386G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.480G>T MANE Select | ENSP00000371923.3:p.Met160Ile | |
| ENST00000329335.3:n.730G>T | ||
| ENST00000382483.3:c.480G>T | ENSP00000371923.3:p.Met160Ile | |
| NM_178857.5:c.480G>T | NP_849188.4:p.Met160Ile | |
| NM_178857.6:c.480G>T MANE Select | NP_849188.4:p.Met160Ile |