gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49682296G>T , CM000665.2:g.49682296G>T | GRCh38 |
| NC_000003.11:g.49719729G>T , CM000665.1:g.49719729G>T | GRCh37 |
| NC_000003.10:g.49694733G>T | NCBI36 |
| NG_011438.1:g.13295G>T | |
| NG_016454.1:g.11468C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296456.10:c.1604-52G>T MANE Select | ENSP00000296456.5:n.1604-52G>T | |
| ENST00000296456.9:c.1604-52G>T | ENSP00000296456.5:n.1604-52G>T | |
| ENST00000438011.5:c.1604-52G>T | ENSP00000415862.1:n.1604-52G>T | |
| ENST00000469362.6:c.448-52G>T | ENSP00000438180.1:n.448-52G>T | |
| NM_001640.3:c.1604-52G>T | NP_001631.3:n.1604-52G>T | |
| XM_005265097.2:c.1466-52G>T | XP_005265154.1:n.1466-52G>T | |
| XM_005265098.3:c.1301-52G>T | XP_005265155.1:n.1301-52G>T | |
| XM_011533656.1:c.2084-52G>T | XP_011531958.1:n.2084-52G>T | |
| XM_011533657.1:c.1946-52G>T | XP_011531959.1:n.1946-52G>T | |
| XM_011533658.1:c.1739-52G>T | XP_011531960.1:n.1739-52G>T | |
| XM_011533659.1:c.1688-52G>T | XP_011531961.1:n.1688-52G>T | |
| XM_011533660.1:c.1604-52G>T | XP_011531962.1:n.1604-52G>T | |
| XM_011533661.1:c.1019-52G>T | XP_011531963.1:n.1019-52G>T | |
| XM_011533662.1:c.1019-52G>T | XP_011531964.1:n.1019-52G>T | |
| XM_011533663.1:c.1019-52G>T | XP_011531965.1:n.1019-52G>T | |
| XM_005265098.4:c.1301-52G>T | XP_005265155.1:n.1301-52G>T | |
| XM_011533658.3:c.1739-52G>T | XP_011531960.1:n.1739-52G>T | |
| XM_011533661.2:c.1019-52G>T | XP_011531963.1:n.1019-52G>T | |
| XM_011533662.2:c.1019-52G>T | XP_011531964.1:n.1019-52G>T | |
| XM_011533663.2:c.1019-52G>T | XP_011531965.1:n.1019-52G>T | |
| XM_017006285.1:c.1601-52G>T | XP_016861774.1:n.1601-52G>T | |
| XM_017006286.1:c.1163-52G>T | XP_016861775.1:n.1163-52G>T | |
| XM_024453499.1:c.1820-52G>T | XP_024309267.1:n.1820-52G>T | |
| XM_024453500.1:c.1769-52G>T | XP_024309268.1:n.1769-52G>T | |
| XM_024453501.1:c.1685-52G>T | XP_024309269.1:n.1685-52G>T | |
| XM_024453502.1:c.1682-52G>T | XP_024309270.1:n.1682-52G>T | |
| XM_024453503.1:c.1547-52G>T | XP_024309271.1:n.1547-52G>T | |
| XM_024453504.1:c.1382-52G>T | XP_024309272.1:n.1382-52G>T | |
| XM_024453505.1:c.1100-52G>T | XP_024309273.1:n.1100-52G>T | |
| XM_024453506.1:c.1100-52G>T | XP_024309274.1:n.1100-52G>T | |
| XM_024453507.1:c.1100-52G>T | XP_024309275.1:n.1100-52G>T | |
| NM_001640.4:c.1604-52G>T MANE Select | NP_001631.3:n.1604-52G>T |