Linked Data
dbSNP Id:
rs780489172
ExAC:
14:97342482 T / C
gnomAD v2:
14-97342482-T-C
gnomAD v3:
14-96876145-T-C
gnomAD v4:
14-96876145-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96876145T>C , CM000676.2:g.96876145T>C | GRCh38 |
| NC_000014.8:g.97342482T>C , CM000676.1:g.97342482T>C | GRCh37 |
| NC_000014.7:g.96412235T>C | NCBI36 |
| NG_016293.1:g.83799T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216639.8:c.1159+25T>C MANE Select | ENSP00000216639.3:n.1159+25T>C | |
| ENST00000553683.2:c.1159+25T>C | ENSP00000451412.2:n.1159+25T>C | |
| ENST00000555067.2:n.11213+25T>C | ||
| ENST00000679365.1:c.1150+25T>C | ENSP00000505882.1:n.1150+25T>C | |
| ENST00000679462.1:c.1194+25T>C | ENSP00000506011.1:n.1194+25T>C | |
| ENST00000679506.1:n.3218+25T>C | ||
| ENST00000679533.1:c.*932+25T>C | ENSP00000505873.1:n.*932+25T>C | |
| ENST00000679650.1:c.*848+25T>C | ENSP00000505156.1:n.*848+25T>C | |
| ENST00000679727.1:c.1153+25T>C | ENSP00000505844.1:n.1153+25T>C | |
| ENST00000679758.1:c.1068+15410T>C | ENSP00000505539.1:n.1068+15410T>C | |
| ENST00000679770.1:c.1159+25T>C | ENSP00000505214.1:n.1159+25T>C | |
| ENST00000679816.1:c.1159+25T>C | ENSP00000506525.1:n.1159+25T>C | |
| ENST00000679843.1:c.462+25T>C | ENSP00000506467.1:n.462+25T>C | |
| ENST00000679903.1:c.1150+25T>C | ENSP00000506022.1:n.1150+25T>C | |
| ENST00000679918.1:c.1159+25T>C | ENSP00000505439.1:n.1159+25T>C | |
| ENST00000679941.1:c.1068+15410T>C | ENSP00000506520.1:n.1068+15410T>C | |
| ENST00000679977.1:c.*405+25T>C | ENSP00000504897.1:n.*405+25T>C | |
| ENST00000680007.1:c.1159+25T>C | ENSP00000505683.1:n.1159+25T>C | |
| ENST00000680335.1:c.1068+15410T>C | ENSP00000505806.1:n.1068+15410T>C | |
| ENST00000680387.1:c.1156+25T>C | ENSP00000504908.1:n.1156+25T>C | |
| ENST00000680526.1:c.*587+15481T>C | ENSP00000505595.1:n.*587+15481T>C | |
| ENST00000680538.1:c.1069+25T>C | ENSP00000505611.1:n.1069+25T>C | |
| ENST00000680683.1:c.1159+25T>C | ENSP00000506334.1:n.1159+25T>C | |
| ENST00000680724.1:c.1159+25T>C | ENSP00000504891.1:n.1159+25T>C | |
| ENST00000680756.1:c.1159+25T>C | ENSP00000506648.1:n.1159+25T>C | |
| ENST00000680849.1:c.1156+25T>C | ENSP00000505602.1:n.1156+25T>C | |
| ENST00000680851.1:c.1069-5032T>C | ENSP00000505159.1:n.1069-5032T>C | |
| ENST00000680922.1:c.*212+15410T>C | ENSP00000506480.1:n.*212+15410T>C | |
| ENST00000680993.1:c.*432+15410T>C | ENSP00000505511.1:n.*432+15410T>C | |
| ENST00000681061.1:c.692+15410T>C | ||
| ENST00000681101.1:c.1159+25T>C | ENSP00000506564.1:n.1159+25T>C | |
| ENST00000681195.1:c.1156+25T>C | ENSP00000504933.1:n.1156+25T>C | |
| ENST00000681249.1:c.1156+25T>C | ENSP00000506013.1:n.1156+25T>C | |
| ENST00000681344.1:c.1159+25T>C | ENSP00000506151.1:n.1159+25T>C | |
| ENST00000681355.1:c.1159+25T>C | ENSP00000506214.1:n.1159+25T>C | |
| ENST00000681363.1:c.*259+25T>C | ENSP00000505564.1:n.*259+25T>C | |
| ENST00000681419.1:c.*2T>C | ENSP00000505512.1:n.*2T>C | |
| ENST00000681474.1:c.*71+25T>C | ENSP00000505569.1:n.*71+25T>C | |
| ENST00000681493.1:c.1153+25T>C | ENSP00000506429.1:n.1153+25T>C | |
| ENST00000681524.1:c.*303+25T>C | ENSP00000505783.1:n.*303+25T>C | |
| ENST00000681538.1:c.*328+25T>C | ENSP00000506662.1:n.*328+25T>C | |
| ENST00000681598.1:c.*537+15410T>C | ENSP00000506128.1:n.*537+15410T>C | |
| ENST00000681677.1:c.783+25T>C | ||
| ENST00000681695.1:c.*749+25T>C | ENSP00000506225.1:n.*749+25T>C | |
| ENST00000681778.1:c.1068+15410T>C | ENSP00000506049.1:n.1068+15410T>C | |
| ENST00000216639.7:c.1159+25T>C | ENSP00000216639.3:n.1159+25T>C | |
| ENST00000553683.1:c.92+25T>C | ||
| ENST00000555067.1:n.389+25T>C | ||
| ENST00000557222.5:c.637+15410T>C | ||
| NM_003384.2:c.1159+25T>C | NP_003375.1:n.1159+25T>C | |
| XM_006720247.2:c.1159+25T>C | XP_006720310.1:n.1159+25T>C | |
| XM_011537132.1:c.1156+25T>C | XP_011535434.1:n.1156+25T>C | |
| XM_006720247.4:c.1159+25T>C | XP_006720310.1:n.1159+25T>C | |
| XM_017021624.2:c.1156+25T>C | XP_016877113.1:n.1156+25T>C | |
| XM_017021625.1:c.1165+25T>C | XP_016877114.1:n.1165+25T>C | |
| XR_001750539.2:n.1106+25T>C | ||
| NM_003384.3:c.1159+25T>C MANE Select | NP_003375.1:n.1159+25T>C |