Linked Data
dbSNP Id:
rs112634398
gnomAD v2:
3-50075494-A-G
gnomAD v3:
3-50038061-A-G
gnomAD v4:
3-50038061-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50038061A>G , CM000665.2:g.50038061A>G | GRCh38 |
| NC_000003.11:g.50075494A>G , CM000665.1:g.50075494A>G | GRCh37 |
| NC_000003.10:g.50050498A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266022.9:c.1558-10184A>G MANE Select | ENSP00000266022.4:n.1558-10184A>G | |
| ENST00000266022.8:c.1558-10184A>G | ENSP00000266022.4:n.1558-10184A>G | |
| ENST00000419610.5:c.45-16274A>G | ENSP00000396410.1:n.45-16274A>G | |
| ENST00000422955.5:c.-9-10184A>G | ENSP00000392939.1:n.-9-10184A>G | |
| ENST00000425608.5:c.1484-10184A>G | ENSP00000408665.1:n.1484-10184A>G | |
| ENST00000434592.5:c.-9-10184A>G | ENSP00000399942.1:n.-9-10184A>G | |
| ENST00000441115.5:n.497-10184A>G | ||
| ENST00000442092.5:c.-9-10184A>G | ENSP00000393530.1:n.-9-10184A>G | |
| ENST00000443081.5:c.1162-10184A>G | ENSP00000396466.1:n.1162-10184A>G | |
| ENST00000454079.5:c.1162-10184A>G | ENSP00000406548.1:n.1162-10184A>G | |
| ENST00000464013.5:n.183-10184A>G | ||
| ENST00000483350.1:n.63-10184A>G | ||
| NM_001167582.1:c.-9-10184A>G | NP_001161054.1:n.-9-10184A>G | |
| NM_005777.2:c.1558-10184A>G | NP_005768.1:n.1558-10184A>G | |
| XM_005264784.1:c.1162-10184A>G | XP_005264841.1:n.1162-10184A>G | |
| XM_005264785.1:c.115-10184A>G | XP_005264842.1:n.115-10184A>G | |
| XM_005264786.1:c.-9-10184A>G | XP_005264843.1:n.-9-10184A>G | |
| XM_005264787.1:c.-9-10184A>G | XP_005264844.1:n.-9-10184A>G | |
| XM_006712916.1:c.1162-10184A>G | XP_006712979.1:n.1162-10184A>G | |
| XR_940359.1:n.1812-10184A>G | ||
| XR_940360.1:n.1812-10184A>G | ||
| NM_001349190.1:c.-9-10184A>G | NP_001336119.1:n.-9-10184A>G | |
| NM_001349191.1:c.-9-10184A>G | NP_001336120.1:n.-9-10184A>G | |
| NM_001349192.1:c.-294-8655A>G | NP_001336121.1:n.-294-8655A>G | |
| NM_001349193.1:c.-176-9099A>G | NP_001336122.1:n.-176-9099A>G | |
| NM_001349194.1:c.16-10184A>G | NP_001336123.1:n.16-10184A>G | |
| NR_146071.1:n.293-16274A>G | ||
| XM_017005496.2:c.1558-10184A>G | XP_016860985.2:n.1558-10184A>G | |
| XM_017005497.1:c.103-10184A>G | XP_016860986.1:n.103-10184A>G | |
| XM_017005500.2:c.-176-9099A>G | XP_016860989.1:n.-176-9099A>G | |
| XM_017005501.2:c.-127-8655A>G | XP_016860990.1:n.-127-8655A>G | |
| XM_017005502.1:c.-9-10184A>G | XP_016860991.1:n.-9-10184A>G | |
| XM_024453288.1:c.-294-8655A>G | XP_024309056.1:n.-294-8655A>G | |
| XR_001739975.2:n.1703-10184A>G | ||
| XR_002959486.1:n.1703-8655A>G | ||
| NM_005777.3:c.1558-10184A>G MANE Select | NP_005768.1:n.1558-10184A>G | |
| NM_001167582.2:c.-9-10184A>G | NP_001161054.1:n.-9-10184A>G | |
| NM_001349190.2:c.-9-10184A>G | NP_001336119.1:n.-9-10184A>G | |
| NM_001349191.2:c.-9-10184A>G | NP_001336120.1:n.-9-10184A>G | |
| NM_001349192.2:c.-294-8655A>G | NP_001336121.1:n.-294-8655A>G | |
| NM_001349193.2:c.-176-9099A>G | NP_001336122.1:n.-176-9099A>G | |
| NM_001349194.2:c.16-10184A>G | NP_001336123.1:n.16-10184A>G | |
| NR_146071.2:n.187-16274A>G |