Linked Data
dbSNP Id:
rs12207601
gnomAD v2:
6-102355867-A-G
gnomAD v3:
6-101907992-A-G
gnomAD v4:
6-101907992-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.101907992A>G , CM000668.2:g.101907992A>G | GRCh38 |
| NC_000006.11:g.102355867A>G , CM000668.1:g.102355867A>G | GRCh37 |
| NC_000006.10:g.102462560A>G | NCBI36 |
| NG_009224.2:g.513963A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681975.1:c.1749-16609A>G | ENSP00000508014.1:n.1749-16609A>G | |
| ENST00000682052.1:n.2134-16609A>G | ||
| ENST00000682090.1:c.1749-16609A>G | ENSP00000508130.1:n.1749-16609A>G | |
| ENST00000682115.1:c.1640-16609A>G | ENSP00000508069.1:n.1640-16609A>G | |
| ENST00000682222.1:c.1749-16609A>G | ENSP00000506840.1:n.1749-16609A>G | |
| ENST00000682716.1:n.2134-16609A>G | ||
| ENST00000683208.1:c.*360-16609A>G | ENSP00000508151.1:n.*360-16609A>G | |
| ENST00000683215.1:c.1749-16609A>G | ENSP00000507424.1:n.1749-16609A>G | |
| ENST00000683774.1:n.2390-16609A>G | ||
| ENST00000683806.1:c.*1776-16609A>G | ENSP00000506783.1:n.*1776-16609A>G | |
| ENST00000683903.1:c.1521-16609A>G | ENSP00000507071.1:n.1521-16609A>G | |
| ENST00000684068.1:c.1749-16609A>G | ENSP00000508175.1:n.1749-16609A>G | |
| ENST00000684279.1:n.2025-16609A>G | ||
| ENST00000369134.9:c.1749-16609A>G MANE Select | ENSP00000358130.6:n.1749-16609A>G | |
| ENST00000369137.8:c.*1740-16609A>G | ENSP00000358133.5:n.*1740-16609A>G | |
| ENST00000421544.6:c.1749-16609A>G | ENSP00000397026.1:n.1749-16609A>G | |
| ENST00000318991.10:c.1635-16609A>G | ENSP00000313276.7:n.1635-16609A>G | |
| ENST00000369134.8:c.1635-16609A>G | ENSP00000358130.5:n.1635-16609A>G | |
| ENST00000369137.7:c.1635-16609A>G | ENSP00000358133.4:n.1635-16609A>G | |
| ENST00000369138.5:c.1749-16609A>G | ENSP00000358134.1:n.1749-16609A>G | |
| ENST00000413795.5:c.1749-16609A>G | ENSP00000405596.1:n.1749-16609A>G | |
| ENST00000421544.5:c.1749-16609A>G | ENSP00000397026.1:n.1749-16609A>G | |
| NM_001166247.1:c.1749-16609A>G | NP_001159719.1:n.1749-16609A>G | |
| NM_021956.4:c.1749-16609A>G | NP_068775.1:n.1749-16609A>G | |
| NM_175768.3:c.1749-16609A>G | NP_786944.1:n.1749-16609A>G | |
| XM_005266945.2:c.1749-16609A>G | XP_005267002.1:n.1749-16609A>G | |
| XM_005266946.2:c.1602-16609A>G | XP_005267003.1:n.1602-16609A>G | |
| XM_011535777.1:c.1749-16609A>G | XP_011534079.1:n.1749-16609A>G | |
| XM_011535778.1:c.1749-16609A>G | XP_011534080.1:n.1749-16609A>G | |
| XM_011535779.1:c.1639+18238A>G | XP_011534081.1:n.1639+18238A>G | |
| XM_011535780.1:c.1749-16609A>G | XP_011534082.1:n.1749-16609A>G | |
| XM_011535781.1:c.1640-16609A>G | XP_011534083.1:n.1640-16609A>G | |
| XM_005266946.4:c.1602-16609A>G | XP_005267003.1:n.1602-16609A>G | |
| XM_011535777.3:c.1749-16609A>G | XP_011534079.1:n.1749-16609A>G | |
| XM_017010781.2:c.1749-16609A>G | XP_016866270.1:n.1749-16609A>G | |
| XM_024446410.1:c.1749-16609A>G | XP_024302178.1:n.1749-16609A>G | |
| XM_024446411.1:c.1749-16609A>G | XP_024302179.1:n.1749-16609A>G | |
| XR_002956278.1:n.2172-16609A>G | ||
| NM_021956.5:c.1749-16609A>G MANE Select | NP_068775.1:n.1749-16609A>G |