Linked Data
gnomAD v4:
X-30308857-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308862dup , CM000685.2:g.30308862dup | GRCh38 |
| NC_000023.10:g.30326979dup , CM000685.1:g.30326979dup | GRCh37 |
| NC_000023.9:g.30236900dup | NCBI36 |
| NG_009814.1:g.5521dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.506dup MANE Select | ENSP00000368253.4:p.Ala170ArgfsTer15 | |
| ENST00000378970.4:c.506dup | ENSP00000368253.4:p.Ala170ArgfsTer15 | |
| NM_000475.4:c.506dup | NP_000466.2:p.Ala170ArgfsTer15 | |
| NM_000475.5:c.506dup MANE Select | NP_000466.2:p.Ala170ArgfsTer15 |