Linked Data
gnomAD v4:
19-35849560-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849561dup , CM000681.2:g.35849561dup | GRCh38 |
| NC_000019.9:g.36340463dup , CM000681.1:g.36340463dup | GRCh37 |
| NC_000019.8:g.41032303dup | NCBI36 |
| NG_013356.2:g.24727dup , LRG_693:g.24727dup | |
| NG_051206.1:g.2927dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.701dup MANE Select | ENSP00000368190.4:p.Asn235GlufsTer18 | |
| ENST00000353632.6:c.701dup | ENSP00000343634.5:p.Asn235GlufsTer18 | |
| ENST00000378910.9:c.701dup | ENSP00000368190.4:p.Asn235GlufsTer18 | |
| NM_004646.3:c.701dup , LRG_693t1:c.701dup | NP_004637.1:p.Asn235GlufsTer18 | |
| NM_004646.4:c.701dup MANE Select | NP_004637.1:p.Asn235GlufsTer18 |