Linked Data
dbSNP Id:
rs10519225
gnomAD v2:
15-49720778-G-A
gnomAD v3:
15-49428581-G-A
gnomAD v4:
15-49428581-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.49428581G>A , CM000677.2:g.49428581G>A | GRCh38 |
| NC_000015.9:g.49720778G>A , CM000677.1:g.49720778G>A | GRCh37 |
| NC_000015.8:g.47508070G>A | NCBI36 |
| NG_029159.1:g.10404G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267843.9:c.286+3998G>A (FGF7) MANE Select | ENSP00000267843.4:n.286+3998G>A | |
| ENST00000299338.11:c.1013-57182C>T (FAM227B) MANE Select | ENSP00000299338.6:n.1013-57182C>T | |
| ENST00000267843.8:c.286+3998G>A (FGF7) | ENSP00000267843.4:n.286+3998G>A | |
| ENST00000299338.10:c.1013-57182C>T (FAM227B) | ENSP00000299338.6:n.1013-57182C>T | |
| ENST00000560765.6:c.286+3998G>A (FGF7) | ENSP00000453048.1:n.286+3998G>A | |
| ENST00000560979.1:c.112+3998G>A (FGF7) | ENSP00000453980.1:n.112+3998G>A | |
| ENST00000561064.5:c.911-5867C>T (FAM227B) | ENSP00000453028.1:n.911-5867C>T | |
| ENST00000614567.4:c.286+3998G>A (FGF7) | ENSP00000478148.1:n.286+3998G>A | |
| NM_002009.3:c.286+3998G>A (FGF7) | NP_002000.1:n.286+3998G>A | |
| NM_152647.2:c.1013-57182C>T (FAM227B) | NP_689860.2:n.1013-57182C>T | |
| XM_005254213.3:c.1013-57182C>T (FAM227B) | XP_005254270.1:n.1013-57182C>T | |
| XM_005254214.3:c.1013-57182C>T (FAM227B) | XP_005254271.1:n.1013-57182C>T | |
| XM_005254215.3:c.977-57182C>T (FAM227B) | XP_005254272.1:n.977-57182C>T | |
| XM_005254216.3:c.911-57182C>T (FAM227B) | XP_005254273.1:n.911-57182C>T | |
| XM_005254219.3:c.1013-57182C>T (FAM227B) | XP_005254276.1:n.1013-57182C>T | |
| XM_006720423.2:c.1013-57182C>T (FAM227B) | XP_006720486.1:n.1013-57182C>T | |
| XM_006720424.2:c.1013-57182C>T (FAM227B) | XP_006720487.1:n.1013-57182C>T | |
| XM_006720426.2:c.872-57182C>T (FAM227B) | XP_006720489.1:n.872-57182C>T | |
| XM_006720427.2:c.764-57182C>T (FAM227B) | XP_006720490.1:n.764-57182C>T | |
| XM_011521318.1:c.1013-57182C>T (FAM227B) | XP_011519620.1:n.1013-57182C>T | |
| XM_011521319.1:c.1013-57182C>T (FAM227B) | XP_011519621.1:n.1013-57182C>T | |
| XM_011521320.1:c.611-57182C>T (FAM227B) | XP_011519622.1:n.611-57182C>T | |
| XM_011521321.1:c.1013-57182C>T (FAM227B) | XP_011519623.1:n.1013-57182C>T | |
| XM_011521322.1:c.575-57182C>T (FAM227B) | XP_011519624.1:n.575-57182C>T | |
| XM_011521323.1:c.*47-5867C>T (FAM227B) | XP_011519625.1:n.*47-5867C>T | |
| XM_011521324.1:c.1013-5867C>T (FAM227B) | XP_011519626.1:n.1013-5867C>T | |
| XM_011521326.1:c.911-5867C>T (FAM227B) | XP_011519628.1:n.911-5867C>T | |
| XR_931762.1:n.1496+4751C>T (FAM227B) | ||
| XR_931763.1:n.1617+4751C>T (FAM227B) | ||
| XR_931764.1:n.1505-5867C>T (FAM227B) | ||
| NM_001330293.1:c.911-5867C>T (FAM227B) | NP_001317222.1:n.911-5867C>T | |
| XM_006720423.3:c.1013-57182C>T (FAM227B) | XP_006720486.1:n.1013-57182C>T | |
| XM_006720427.4:c.764-57182C>T (FAM227B) | XP_006720490.1:n.764-57182C>T | |
| XM_011521319.2:c.1013-57182C>T (FAM227B) | XP_011519621.1:n.1013-57182C>T | |
| XM_011521321.2:c.1013-57182C>T (FAM227B) | XP_011519623.1:n.1013-57182C>T | |
| XM_017021990.1:c.770-57182C>T (FAM227B) | XP_016877479.1:n.770-57182C>T | |
| XM_017021991.2:c.764-57182C>T (FAM227B) | XP_016877480.1:n.764-57182C>T | |
| XM_017021992.1:c.713-57182C>T (FAM227B) | XP_016877481.1:n.713-57182C>T | |
| XM_017021993.1:c.770-57182C>T (FAM227B) | XP_016877482.1:n.770-57182C>T | |
| XM_017021994.1:c.671-57182C>T (FAM227B) | XP_016877483.1:n.671-57182C>T | |
| XM_017021995.1:c.1013-57182C>T (FAM227B) | XP_016877484.1:n.1013-57182C>T | |
| XM_017021996.1:c.611-57182C>T (FAM227B) | XP_016877485.1:n.611-57182C>T | |
| XM_024449861.1:c.662-57182C>T (FAM227B) | XP_024305629.1:n.662-57182C>T | |
| XM_024449865.1:c.872-5867C>T (FAM227B) | XP_024305633.1:n.872-5867C>T | |
| XM_024449866.1:c.671-57182C>T (FAM227B) | XP_024305634.1:n.671-57182C>T | |
| NM_002009.4:c.286+3998G>A (FGF7) MANE Select | NP_002000.1:n.286+3998G>A | |
| NM_001330293.2:c.911-5867C>T (FAM227B) | NP_001317222.1:n.911-5867C>T | |
| NM_152647.3:c.1013-57182C>T (FAM227B) MANE Select | NP_689860.2:n.1013-57182C>T |