Linked Data
dbSNP Id:
rs1196633885
gnomAD v2:
2-55899289-T-TA
gnomAD v3:
2-55672154-T-TA
gnomAD v4:
2-55672154-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55672157dup , CM000664.2:g.55672157dup | GRCh38 |
| NC_000002.11:g.55899292dup , CM000664.1:g.55899292dup | GRCh37 |
| NC_000002.10:g.55752796dup | NCBI36 |
| NG_033012.1:g.26756dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.867-109dup MANE Select | ENSP00000400646.2:n.867-109dup | |
| ENST00000260604.8:c.*422-109dup | ENSP00000260604.4:n.*422-109dup | |
| ENST00000415374.5:c.867-109dup | ENSP00000393953.1:n.867-109dup | |
| ENST00000447944.6:c.867-109dup | ENSP00000400646.2:n.867-109dup | |
| NM_033109.4:c.867-109dup | NP_149100.2:n.867-109dup | |
| XM_005264629.1:c.627-109dup | XP_005264686.1:n.627-109dup | |
| XM_011533142.1:c.867-109dup | XP_011531444.1:n.867-109dup | |
| XM_005264629.2:c.627-109dup | XP_005264686.1:n.627-109dup | |
| XM_017005172.1:c.627-109dup | XP_016860661.1:n.627-109dup | |
| XR_001739010.1:n.897-109dup | ||
| NM_033109.5:c.867-109dup MANE Select | NP_149100.2:n.867-109dup |