Linked Data
ClinVar Variation Id:
3037284
ClinVar RCV Id:
RCV003914240
dbSNP Id:
rs33990581
ExAC:
17:46675426 C / T
gnomAD v2:
17-46675426-C-T
gnomAD v3:
17-48598064-C-T
gnomAD v4:
17-48598064-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48598064C>T , CM000679.2:g.48598064C>T | GRCh38 |
| NC_000017.10:g.46675426C>T , CM000679.1:g.46675426C>T | GRCh37 |
| NC_000017.9:g.44030425C>T | NCBI36 |
| NG_046953.1:g.11929G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225648.4:c.87G>A (HOXB6) MANE Select | ENSP00000225648.3:p.Ser29= | |
| ENST00000225648.3:c.87G>A (HOXB6) | ENSP00000225648.3:p.Ser29= | |
| ENST00000484302.3:c.87G>A (HOXB6) | ENSP00000420009.2:p.Ser29= | |
| ENST00000552000.2:n.433+6416G>A (HOXB3) | ||
| NM_018952.4:c.87G>A (HOXB6) | NP_061825.2:p.Ser29= | |
| NR_033201.2:n.171-5863C>T (HOXB-AS3) | ||
| NR_033202.2:n.171-2383C>T (HOXB-AS3) | ||
| NR_033203.1:n.74-2383C>T (HOXB-AS3) | ||
| NR_033204.2:n.73+5700C>T (HOXB-AS3) | ||
| NR_033205.1:n.166+1941C>T (HOXB-AS3) | ||
| NR_110329.1:n.74-4015C>T (HOXB-AS3) | ||
| NR_110330.1:n.166+1941C>T (HOXB-AS3) | ||
| NR_110331.1:n.171-2383C>T (HOXB-AS3) | ||
| XM_005257283.2:c.87G>A (HOXB6) | XP_005257340.1:p.Ser29= | |
| XM_005257284.2:c.87G>A (HOXB6) | XP_005257341.1:p.Ser29= | |
| XM_006721856.2:c.87G>A (HOXB6) | XP_006721919.1:p.Ser29= | |
| XM_011524727.1:c.279G>A (HOXB6) | XP_011523029.1:p.Ser93= | |
| XM_005257284.3:c.87G>A (HOXB6) | XP_005257341.1:p.Ser29= | |
| XM_011524727.3:c.279G>A (HOXB6) | XP_011523029.1:p.Ser93= | |
| NM_018952.5:c.87G>A (HOXB6) MANE Select | NP_061825.2:p.Ser29= | |
| NM_001369397.2:c.87G>A (HOXB6) | NP_001356326.1:p.Ser29= |