Linked Data
dbSNP Id:
rs759472397
ExAC:
21:33032195 A / AC
gnomAD v2:
21-33032195-A-AC
gnomAD v4:
21-31659882-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659885dup , CM000683.2:g.31659885dup | GRCh38 |
| NC_000021.8:g.33032198dup , CM000683.1:g.33032198dup | GRCh37 |
| NC_000021.7:g.31954069dup | NCBI36 |
| NG_008689.1:g.5264dup , LRG_652:g.5264dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.72+44dup MANE Select | ENSP00000270142.7:n.72+44dup | |
| ENST00000270142.10:c.72+44dup | ENSP00000270142.6:n.72+44dup | |
| ENST00000389995.4:c.15+101dup | ENSP00000374645.4:n.15+101dup | |
| ENST00000470944.1:n.177dup | ||
| ENST00000476106.5:n.149+44dup | ||
| NM_000454.4:c.72+44dup , LRG_652t1:c.72+44dup | NP_000445.1:n.72+44dup | |
| NM_000454.5:c.72+44dup MANE Select | NP_000445.1:n.72+44dup |