Linked Data
dbSNP Id:
rs750816290
ExAC:
13:47409175 G / GT
gnomAD v2:
13-47409175-G-GT
gnomAD v4:
13-46835040-G-GT
COSMIC:
COSM4431313
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46835046dup , CM000675.2:g.46835046dup | GRCh38 |
| NC_000013.10:g.47409181dup , CM000675.1:g.47409181dup | GRCh37 |
| NC_000013.9:g.46307182dup | NCBI36 |
| NG_013011.1:g.66994dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542664.4:c.1212dup MANE Select | ENSP00000437737.1:p.Pro405ThrfsTer18 | |
| ENST00000543956.5:c.723dup | ENSP00000441861.2:p.Pro242ThrfsTer18 | |
| ENST00000378688.8:c.1212dup | ENSP00000367959.3:p.Pro405ThrfsTer18 | |
| ENST00000542664.3:c.1212dup | ENSP00000437737.1:p.Pro405ThrfsTer18 | |
| ENST00000543956.4:c.960dup | ENSP00000441861.1:p.Pro321ThrfsTer18 | |
| NM_000621.4:c.1212dup | NP_000612.1:p.Pro405ThrfsTer18 | |
| NM_001165947.2:c.960dup | NP_001159419.1:p.Pro321ThrfsTer18 | |
| NM_000621.5:c.1212dup MANE Select | NP_000612.1:p.Pro405ThrfsTer18 | |
| NM_001165947.5:c.723dup | NP_001159419.2:p.Pro242ThrfsTer18 | |
| NM_001378924.1:c.1212dup | NP_001365853.1:p.Pro405ThrfsTer18 |