Linked Data
dbSNP Id:
rs11012732
gnomAD v2:
10-21830104-A-G
gnomAD v3:
10-21541175-A-G
gnomAD v4:
10-21541175-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.21541175A>G , CM000672.2:g.21541175A>G | GRCh38 |
| NC_000010.10:g.21830104A>G , CM000672.1:g.21830104A>G | GRCh37 |
| NC_000010.9:g.21870110A>G | NCBI36 |
| NG_027818.1:g.12004A>G | |
| NG_027818.2:g.12004A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307729.12:c.240+2263A>G MANE Select | ENSP00000307411.7:n.240+2263A>G | |
| ENST00000377072.8:c.240+2263A>G | ENSP00000366272.3:n.240+2263A>G | |
| ENST00000377091.7:c.240+2263A>G | ENSP00000366295.2:n.240+2263A>G | |
| ENST00000377100.8:c.240+2263A>G | ENSP00000366304.3:n.240+2263A>G | |
| ENST00000430455.2:c.136+2263A>G | ||
| ENST00000480415.6:n.136+2263A>G | ||
| ENST00000650772.1:c.240+2263A>G | ENSP00000498688.1:n.240+2263A>G | |
| ENST00000650893.1:c.240+2263A>G | ENSP00000499068.1:n.240+2263A>G | |
| ENST00000651097.1:c.-118+2263A>G | ENSP00000498343.1:n.-118+2263A>G | |
| ENST00000651298.1:c.240+2263A>G | ENSP00000498270.1:n.240+2263A>G | |
| ENST00000652497.1:c.240+2263A>G | ENSP00000498595.1:n.240+2263A>G | |
| ENST00000307729.11:c.240+2263A>G | ENSP00000307411.7:n.240+2263A>G | |
| ENST00000377059.7:c.240+2263A>G | ENSP00000366258.4:n.240+2263A>G | |
| ENST00000377072.7:c.240+2263A>G | ENSP00000366272.3:n.240+2263A>G | |
| ENST00000377091.6:c.240+2263A>G | ENSP00000366295.2:n.240+2263A>G | |
| ENST00000377100.7:c.240+2263A>G | ENSP00000366304.3:n.240+2263A>G | |
| ENST00000430455.1:c.136+2263A>G | ||
| ENST00000462999.5:n.137-88A>G | ||
| ENST00000476557.5:n.183+2263A>G | ||
| ENST00000479634.1:n.56+6371A>G | ||
| ENST00000480415.5:n.136+2263A>G | ||
| ENST00000495130.5:n.271+2263A>G | ||
| ENST00000621220.4:c.240+2263A>G | ENSP00000484335.1:n.240+2263A>G | |
| ENST00000631589.1:c.240+2263A>G | ENSP00000488569.1:n.240+2263A>G | |
| NM_001195626.1:c.240+2263A>G | NP_001182555.1:n.240+2263A>G | |
| NM_001195627.1:c.240+2263A>G | NP_001182556.1:n.240+2263A>G | |
| NM_001195628.1:c.240+2263A>G | NP_001182557.1:n.240+2263A>G | |
| NM_001195630.1:c.240+2263A>G | NP_001182559.1:n.240+2263A>G | |
| NM_004641.3:c.240+2263A>G | NP_004632.1:n.240+2263A>G | |
| XM_005252605.2:c.240+2263A>G | XP_005252662.1:n.240+2263A>G | |
| XM_005252608.2:c.240+2263A>G | XP_005252665.1:n.240+2263A>G | |
| XM_005252609.2:c.240+2263A>G | XP_005252666.1:n.240+2263A>G | |
| XM_011519696.1:c.240+2263A>G | XP_011517998.1:n.240+2263A>G | |
| XM_011519697.1:c.240+2263A>G | XP_011517999.1:n.240+2263A>G | |
| XM_011519698.1:c.240+2263A>G | XP_011518000.1:n.240+2263A>G | |
| XM_011519699.1:c.240+2263A>G | XP_011518001.1:n.240+2263A>G | |
| XM_011519700.1:c.240+2263A>G | XP_011518002.1:n.240+2263A>G | |
| XM_011519701.1:c.240+2263A>G | XP_011518003.1:n.240+2263A>G | |
| XM_011519702.1:c.240+2263A>G | XP_011518004.1:n.240+2263A>G | |
| XM_011519703.1:c.-47+2263A>G | XP_011518005.1:n.-47+2263A>G | |
| XM_011519704.1:c.-47+2263A>G | XP_011518006.1:n.-47+2263A>G | |
| XM_011519705.1:c.-322+2263A>G | XP_011518007.1:n.-322+2263A>G | |
| XR_930517.1:n.411+2263A>G | ||
| NM_001324296.1:c.240+2263A>G | NP_001311225.1:n.240+2263A>G | |
| NM_001324297.1:c.-836+2263A>G | NP_001311226.1:n.-836+2263A>G | |
| NR_136736.1:n.563+2263A>G | ||
| XM_024448179.1:c.240+2263A>G | XP_024303947.1:n.240+2263A>G | |
| XM_024448180.1:c.240+2263A>G | XP_024303948.1:n.240+2263A>G | |
| XM_024448181.1:c.240+2263A>G | XP_024303949.1:n.240+2263A>G | |
| XM_024448182.1:c.240+2263A>G | XP_024303950.1:n.240+2263A>G | |
| XM_024448183.1:c.240+2263A>G | XP_024303951.1:n.240+2263A>G | |
| XM_024448184.1:c.240+2263A>G | XP_024303952.1:n.240+2263A>G | |
| XM_024448186.1:c.240+2263A>G | XP_024303954.1:n.240+2263A>G | |
| XM_024448187.1:c.240+2263A>G | XP_024303955.1:n.240+2263A>G | |
| XM_024448188.1:c.240+2263A>G | XP_024303956.1:n.240+2263A>G | |
| XM_024448189.1:c.240+2263A>G | XP_024303957.1:n.240+2263A>G | |
| XM_024448190.1:c.240+2263A>G | XP_024303958.1:n.240+2263A>G | |
| XM_024448191.1:c.240+2263A>G | XP_024303959.1:n.240+2263A>G | |
| XM_024448192.1:c.-47+2263A>G | XP_024303960.1:n.-47+2263A>G | |
| XM_024448194.1:c.-322+2263A>G | XP_024303962.1:n.-322+2263A>G | |
| XM_024448195.1:c.-322+2263A>G | XP_024303963.1:n.-322+2263A>G | |
| XM_024448197.1:c.-63+2263A>G | XP_024303965.1:n.-63+2263A>G | |
| XM_024448198.1:c.-118+2263A>G | XP_024303966.1:n.-118+2263A>G | |
| XM_024448199.1:c.-63+2263A>G | XP_024303967.1:n.-63+2263A>G | |
| XM_024448200.1:c.-322+2263A>G | XP_024303968.1:n.-322+2263A>G | |
| XM_024448202.1:c.-262+2263A>G | XP_024303970.1:n.-262+2263A>G | |
| XM_024448204.1:c.-632+2263A>G | XP_024303972.1:n.-632+2263A>G | |
| XM_024448205.1:c.-632+2263A>G | XP_024303973.1:n.-632+2263A>G | |
| XM_024448206.1:c.240+2263A>G | XP_024303974.1:n.240+2263A>G | |
| XR_002957016.1:n.411+2263A>G | ||
| NM_001195626.3:c.240+2263A>G MANE Select | NP_001182555.1:n.240+2263A>G | |
| NM_001195627.2:c.240+2263A>G | NP_001182556.1:n.240+2263A>G | |
| NM_001195628.2:c.240+2263A>G | NP_001182557.1:n.240+2263A>G | |
| NM_001195630.2:c.240+2263A>G | NP_001182559.1:n.240+2263A>G | |
| NM_001324296.2:c.240+2263A>G | NP_001311225.1:n.240+2263A>G | |
| NM_001324297.2:c.-836+2263A>G | NP_001311226.1:n.-836+2263A>G | |
| NM_004641.4:c.240+2263A>G | NP_004632.1:n.240+2263A>G | |
| NR_136736.2:n.503+2263A>G |