Linked Data
dbSNP Id:
rs10183914
gnomAD v2:
2-178097666-C-T
gnomAD v3:
2-177232938-C-T
gnomAD v4:
2-177232938-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.177232938C>T , CM000664.2:g.177232938C>T | GRCh38 |
| NC_000002.11:g.178097666C>T , CM000664.1:g.178097666C>T | GRCh37 |
| NC_000002.10:g.177805912C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397063.9:c.354+312G>A | ENSP00000380253.4:n.354+312G>A | |
| ENST00000421929.6:c.354+312G>A | ENSP00000412191.2:n.354+312G>A | |
| ENST00000423513.6:n.804G>A | ||
| ENST00000448782.6:c.354+312G>A | ENSP00000400073.2:n.354+312G>A | |
| ENST00000458603.2:c.354+312G>A | ENSP00000416308.2:n.354+312G>A | |
| ENST00000462023.2:n.1534G>A | ||
| ENST00000477534.2:n.1469G>A | ||
| ENST00000586532.6:c.399+312G>A | ENSP00000464920.2:n.399+312G>A | |
| ENST00000588123.2:c.354+312G>A | ENSP00000468089.2:n.354+312G>A | |
| ENST00000699220.1:c.402+312G>A | ENSP00000514214.1:n.402+312G>A | |
| ENST00000699223.1:c.183+312G>A | ENSP00000514217.1:n.183+312G>A | |
| ENST00000699224.1:c.402+312G>A | ENSP00000514218.1:n.402+312G>A | |
| ENST00000699264.1:c.402+312G>A | ENSP00000514245.1:n.402+312G>A | |
| ENST00000699265.1:c.399+312G>A | ENSP00000514246.1:n.399+312G>A | |
| ENST00000699296.1:c.402+312G>A | ENSP00000514276.1:n.402+312G>A | |
| ENST00000699297.1:c.354+312G>A | ENSP00000514277.1:n.354+312G>A | |
| ENST00000699298.1:c.354+312G>A | ENSP00000514278.1:n.354+312G>A | |
| ENST00000699299.1:c.*52+312G>A | ENSP00000514279.1:n.*52+312G>A | |
| ENST00000699300.1:c.313-355G>A | ENSP00000514280.1:n.313-355G>A | |
| ENST00000699301.1:c.399+312G>A | ENSP00000514281.1:n.399+312G>A | |
| ENST00000699302.1:c.354+312G>A | ENSP00000514282.1:n.354+312G>A | |
| ENST00000699303.1:c.399+312G>A | ENSP00000514283.1:n.399+312G>A | |
| ENST00000699304.1:c.399+312G>A | ENSP00000514284.1:n.399+312G>A | |
| ENST00000699305.1:c.399+312G>A | ENSP00000514285.1:n.399+312G>A | |
| ENST00000699306.1:n.818G>A | ||
| ENST00000699307.1:c.402+312G>A | ENSP00000514286.1:n.402+312G>A | |
| ENST00000699327.1:c.357+312G>A | ENSP00000514302.1:n.357+312G>A | |
| ENST00000699328.1:c.354+312G>A | ENSP00000514303.1:n.354+312G>A | |
| ENST00000699329.1:n.2857G>A | ||
| ENST00000699330.1:c.354+312G>A | ENSP00000514304.1:n.354+312G>A | |
| ENST00000699331.1:c.399+312G>A | ENSP00000514305.1:n.399+312G>A | |
| ENST00000699332.1:n.786G>A | ||
| ENST00000699342.1:c.402+312G>A | ENSP00000514317.1:n.402+312G>A | |
| ENST00000699343.1:c.354+312G>A | ENSP00000514318.1:n.354+312G>A | |
| ENST00000699344.1:c.363+312G>A | ENSP00000514319.1:n.363+312G>A | |
| ENST00000699345.1:c.399+312G>A | ENSP00000514320.1:n.399+312G>A | |
| ENST00000699346.1:c.540+312G>A | ENSP00000514321.1:n.540+312G>A | |
| ENST00000699347.1:c.354+312G>A | ENSP00000514322.1:n.354+312G>A | |
| ENST00000699348.1:c.399+312G>A | ENSP00000514323.1:n.399+312G>A | |
| ENST00000699349.1:n.854G>A | ||
| ENST00000699350.1:c.399+312G>A | ENSP00000514324.1:n.399+312G>A | |
| ENST00000699351.1:c.354+312G>A | ENSP00000514325.1:n.354+312G>A | |
| ENST00000699352.1:c.399+312G>A | ENSP00000514326.1:n.399+312G>A | |
| ENST00000699404.1:c.399+312G>A | ENSP00000514365.1:n.399+312G>A | |
| ENST00000699405.1:c.402+312G>A | ENSP00000514366.1:n.402+312G>A | |
| ENST00000699406.1:c.399+312G>A | ENSP00000514367.1:n.399+312G>A | |
| ENST00000699407.1:c.265-355G>A | ENSP00000514368.1:n.265-355G>A | |
| ENST00000699408.1:c.354+312G>A | ENSP00000514369.1:n.354+312G>A | |
| ENST00000699409.1:c.354+312G>A | ENSP00000514370.1:n.354+312G>A | |
| ENST00000699410.1:c.399+312G>A | ENSP00000514371.1:n.399+312G>A | |
| ENST00000699411.1:c.363+312G>A | ENSP00000514372.1:n.363+312G>A | |
| ENST00000699412.1:c.363+312G>A | ENSP00000514373.1:n.363+312G>A | |
| ENST00000699431.1:c.354+312G>A | ENSP00000514384.1:n.354+312G>A | |
| ENST00000699432.1:c.357+312G>A | ENSP00000514385.1:n.357+312G>A | |
| ENST00000699433.1:n.1150+312G>A | ||
| ENST00000699434.1:c.354+312G>A | ENSP00000514386.1:n.354+312G>A | |
| ENST00000699435.1:c.399+312G>A | ENSP00000514387.1:n.399+312G>A | |
| ENST00000397062.8:c.402+312G>A MANE Select | ENSP00000380252.3:n.402+312G>A | |
| ENST00000397062.7:c.402+312G>A | ENSP00000380252.3:n.402+312G>A | |
| ENST00000397063.8:c.354+312G>A | ENSP00000380253.4:n.354+312G>A | |
| ENST00000421929.5:c.354+312G>A | ENSP00000412191.1:n.354+312G>A | |
| ENST00000423513.5:c.*240G>A | ENSP00000410015.1:n.*240G>A | |
| ENST00000430047.1:c.64-1008G>A | ENSP00000391291.1:n.64-1008G>A | |
| ENST00000446151.6:c.354+312G>A | ENSP00000411575.2:n.354+312G>A | |
| ENST00000448782.5:c.354+312G>A | ENSP00000400073.1:n.354+312G>A | |
| ENST00000449627.1:c.193+1138G>A | ENSP00000391590.1:n.193+1138G>A | |
| ENST00000464747.5:c.354+312G>A | ENSP00000467401.1:n.354+312G>A | |
| ENST00000586532.5:c.399+312G>A | ENSP00000464920.1:n.399+312G>A | |
| ENST00000588123.1:c.354+312G>A | ENSP00000468089.1:n.354+312G>A | |
| NM_001145412.2:c.354+312G>A | NP_001138884.1:n.354+312G>A | |
| NM_001145412.3:c.354+312G>A | NP_001138884.1:n.354+312G>A | |
| NM_001145413.2:c.354+312G>A | NP_001138885.1:n.354+312G>A | |
| NM_001145413.3:c.354+312G>A | NP_001138885.1:n.354+312G>A | |
| NM_001313900.1:c.354+312G>A | NP_001300829.1:n.354+312G>A | |
| NM_001313901.1:c.354+312G>A | NP_001300830.1:n.354+312G>A | |
| NM_001313902.1:c.313-355G>A | NP_001300831.1:n.313-355G>A | |
| NM_001313903.1:c.183+312G>A | NP_001300832.1:n.183+312G>A | |
| NM_001313904.1:c.102+312G>A | NP_001300833.1:n.102+312G>A | |
| NM_006164.4:c.402+312G>A | NP_006155.2:n.402+312G>A | |
| NM_006164.5:c.402+312G>A MANE Select | NP_006155.2:n.402+312G>A | |
| NM_001313902.2:c.313-355G>A | NP_001300831.1:n.313-355G>A | |
| NM_001313903.2:c.183+312G>A | NP_001300832.1:n.183+312G>A |