Linked Data
ClinVar Variation Id:
715220
ClinVar RCV Id:
RCV000887655
dbSNP Id:
rs78492630
ExAC:
2:176973732 A / G
gnomAD v2:
2-176973732-A-G
gnomAD v3:
2-176109004-A-G
gnomAD v4:
2-176109004-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176109004A>G , CM000664.2:g.176109004A>G | GRCh38 |
| NC_000002.11:g.176973732A>G , CM000664.1:g.176973732A>G | GRCh37 |
| NC_000002.10:g.176681978A>G | NCBI36 |
| NG_008133.2:g.2241A>G , LRG_246:g.2241A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249504.7:c.879A>G (HOXD11) MANE Select | ENSP00000249504.5:p.Lys293= | |
| ENST00000249504.6:c.879A>G (HOXD11) | ENSP00000249504.5:p.Lys293= | |
| ENST00000490088.2:n.215A>G (HOXD10) | ||
| ENST00000498438.1:n.509A>G (HOXD11) | ||
| ENST00000549469.1:n.128A>G (HOXD10) | ||
| ENST00000619244.1:c.348A>G (HOXD11) | ENSP00000480304.1:p.Lys116= | |
| NM_021192.2:c.879A>G (HOXD11) | NP_067015.2:p.Lys293= | |
| NM_021192.3:c.879A>G (HOXD11) MANE Select | NP_067015.2:p.Lys293= |