Linked Data
dbSNP Id:
rs1565641145
gnomAD v2:
12-53045925-A-AT
gnomAD v4:
12-52652141-A-AT
MyVariant Identifiers:
chr12:g.53045926_53045927insT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652142dup , CM000674.2:g.52652142dup | GRCh38 |
| NC_000012.11:g.53045926dup , CM000674.1:g.53045926dup | GRCh37 |
| NC_000012.10:g.51332193dup | NCBI36 |
| NG_008296.1:g.5034dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.1dup MANE Select | ENSP00000310861.3:p.Met1AsnfsTer? | |
| ENST00000309680.3:c.1dup | ENSP00000310861.3:p.Met1AsnfsTer? | |
| NM_000423.2:c.1dup | NP_000414.2:p.Met1AsnfsTer? | |
| NM_000423.3:c.1dup MANE Select | NP_000414.2:p.Met1AsnfsTer? |