Linked Data
dbSNP Id:
rs1048242618
gnomAD v4:
16-1986057-G-T
COSMIC:
COSN26557684
MyVariant Identifiers:
chr16:g.1986057G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986057G>T , CM000678.2:g.1986057G>T | GRCh38 |
| NC_000016.9:g.2036058G>T , CM000678.1:g.2036058G>T | GRCh37 |
| NC_000016.8:g.1976059G>T | NCBI36 |
| NG_016288.1:g.6909G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.*29G>T | ENSP00000455885.1:n.*29G>T | |
| ENST00000248114.7:c.*29G>T MANE Select | ENSP00000248114.6:n.*29G>T | |
| ENST00000248114.6:c.*29G>T | ENSP00000248114.6:n.*29G>T | |
| ENST00000565658.1:n.804G>T | ||
| ENST00000567719.1:c.*29G>T | ENSP00000455885.1:n.*29G>T | |
| ENST00000569451.1:c.*120G>T | ENSP00000456432.1:n.*120G>T | |
| NM_005262.2:c.*29G>T | NP_005253.3:n.*29G>T | |
| NM_005262.3:c.*29G>T MANE Select | NP_005253.3:n.*29G>T |