ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48966665dup , CM000681.2:g.48966665dup | GRCh38 |
| NC_000019.9:g.49469922dup , CM000681.1:g.49469922dup | GRCh37 |
| NC_000019.8:g.54161734dup | NCBI36 |
| NG_008152.1:g.6357dup | |
| NG_012923.1:g.31689dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.458dup MANE Select | ENSP00000366525.2:p.His153GlnfsTer28 | |
| ENST00000331825.10:c.458dup | ENSP00000366525.2:p.His153GlnfsTer28 | |
| ENST00000622577.2:c.458dup | ENSP00000484043.1:p.His153GlnfsTer24 | |
| NM_000146.3:c.458dup | NP_000137.2:p.His153GlnfsTer28 | |
| XM_024451447.1:c.968dup | XP_024307215.1:p.His323GlnfsTer28 | |
| NM_000146.4:c.458dup MANE Select | NP_000137.2:p.His153GlnfsTer28 |