Linked Data
gnomAD v4:
12-76346980-T-TTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346980_76346981insTA , CM000674.2:g.76346980_76346981insTA | GRCh38 |
| NC_000012.11:g.76740760_76740761insTA , CM000674.1:g.76740760_76740761insTA | GRCh37 |
| NC_000012.10:g.75264891_75264892insTA | NCBI36 |
| NG_016357.1:g.6462_6463insTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.1004_1005insTA MANE Select | ENSP00000497413.1:p.Ser336AsnfsTer? | |
| ENST00000393262.3:c.1004_1005insTA | ENSP00000376946.3:p.Ser336AsnfsTer? | |
| NM_024685.3:c.1004_1005insTA | NP_078961.3:p.Ser336AsnfsTer? | |
| NM_024685.4:c.1004_1005insTA MANE Select | NP_078961.3:p.Ser336AsnfsTer? |