Linked Data
dbSNP Id:
rs2153502475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188995066dup , CM000664.2:g.188995066dup | GRCh38 |
| NC_000002.11:g.189859792dup , CM000664.1:g.189859792dup | GRCh37 |
| NC_000002.10:g.189568037dup | NCBI36 |
| NG_007404.1:g.25694dup , LRG_3:g.25694dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450867.2:c.1377dup | ENSP00000415346.2:p.Pro460ThrfsTer? | |
| ENST00000304636.9:c.1476dup MANE Select | ENSP00000304408.4:p.Pro493ThrfsTer? | |
| ENST00000304636.7:c.1476dup | ENSP00000304408.3:p.Pro493ThrfsTer? | |
| ENST00000317840.9:c.1476dup | ENSP00000315243.6:p.Pro493ThrfsTer? | |
| NM_000090.3:c.1476dup , LRG_3t1:c.1476dup | NP_000081.1:p.Pro493ThrfsTer? | |
| NM_000090.4:c.1476dup MANE Select | NP_000081.2:p.Pro493ThrfsTer? |