Linked Data
dbSNP Id:
rs2275247
gnomAD v2:
1-35908451-T-C
gnomAD v3:
1-35442850-T-C
gnomAD v4:
1-35442850-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.35442850T>C , CM000663.2:g.35442850T>C | GRCh38 |
| NC_000001.10:g.35908451T>C , CM000663.1:g.35908451T>C | GRCh37 |
| NC_000001.9:g.35681038T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426982.7:c.2779+56A>G | ENSP00000395883.3:n.2779+56A>G | |
| ENST00000461312.6:c.2779+56A>G | ENSP00000513058.1:n.2779+56A>G | |
| ENST00000469892.6:c.2779+56A>G | ENSP00000419396.2:n.2779+56A>G | |
| ENST00000697000.1:c.*1425+56A>G | ENSP00000513030.1:n.*1425+56A>G | |
| ENST00000697001.1:c.2779+56A>G | ENSP00000513031.1:n.2779+56A>G | |
| ENST00000697002.1:c.2488+56A>G | ENSP00000513032.1:n.2488+56A>G | |
| ENST00000697003.1:c.*1835+56A>G | ENSP00000513033.1:n.*1835+56A>G | |
| ENST00000697004.1:c.*1972+56A>G | ENSP00000513034.1:n.*1972+56A>G | |
| ENST00000697005.1:c.*1331+56A>G | ENSP00000513035.1:n.*1331+56A>G | |
| ENST00000697006.1:c.*2627+56A>G | ENSP00000513036.1:n.*2627+56A>G | |
| ENST00000697007.1:c.*1707+56A>G | ENSP00000513037.1:n.*1707+56A>G | |
| ENST00000697008.1:c.*1317+56A>G | ENSP00000513038.1:n.*1317+56A>G | |
| ENST00000697009.1:c.1789+56A>G | ENSP00000513039.1:n.1789+56A>G | |
| ENST00000697010.1:c.2008+56A>G | ENSP00000513040.1:n.2008+56A>G | |
| ENST00000697011.1:c.1906+56A>G | ENSP00000513041.1:n.1906+56A>G | |
| ENST00000697012.1:c.*2380+56A>G | ENSP00000513042.1:n.*2380+56A>G | |
| ENST00000697013.1:c.*2021+56A>G | ENSP00000513043.1:n.*2021+56A>G | |
| ENST00000697014.1:c.*86+56A>G | ENSP00000513044.1:n.*86+56A>G | |
| ENST00000697015.1:c.*2077A>G | ENSP00000513045.1:n.*2077A>G | |
| ENST00000697016.1:c.*1234+56A>G | ENSP00000513046.1:n.*1234+56A>G | |
| ENST00000697017.1:c.*783+56A>G | ENSP00000513047.1:n.*783+56A>G | |
| ENST00000697018.1:c.*86+56A>G | ENSP00000513048.1:n.*86+56A>G | |
| ENST00000697019.1:c.*2627+56A>G | ENSP00000513049.1:n.*2627+56A>G | |
| ENST00000697020.1:c.*420+56A>G | ENSP00000513050.1:n.*420+56A>G | |
| ENST00000697021.1:c.*1220+56A>G | ENSP00000513051.1:n.*1220+56A>G | |
| ENST00000697022.1:c.*1318+56A>G | ENSP00000513052.1:n.*1318+56A>G | |
| ENST00000697023.1:c.2835A>G | ENSP00000513053.1:p.Ala945= | |
| ENST00000697024.1:c.2095+56A>G | ENSP00000513054.1:n.2095+56A>G | |
| ENST00000697025.1:c.*1011A>G | ENSP00000513055.1:n.*1011A>G | |
| ENST00000697026.1:n.5808+56A>G | ||
| ENST00000697027.1:c.*86+56A>G | ENSP00000513056.1:n.*86+56A>G | |
| ENST00000697028.1:c.2779+56A>G | ENSP00000513057.1:n.2779+56A>G | |
| ENST00000325722.8:c.2779+56A>G MANE Select | ENSP00000318406.3:n.2779+56A>G | |
| ENST00000325722.7:c.2779+56A>G | ENSP00000318406.3:n.2779+56A>G | |
| ENST00000373266.8:c.1090+56A>G | ENSP00000362363.4:n.1090+56A>G | |
| ENST00000426982.6:c.2779+56A>G | ENSP00000395883.2:n.2779+56A>G | |
| ENST00000461312.5:n.193+56A>G | ||
| ENST00000473423.1:n.350+56A>G | ||
| ENST00000485551.5:n.1710+56A>G | ||
| NM_024874.4:c.2779+56A>G | NP_079150.3:n.2779+56A>G | |
| XM_006710907.1:c.2779+56A>G | XP_006710970.1:n.2779+56A>G | |
| XM_006710909.1:c.2779+56A>G | XP_006710972.1:n.2779+56A>G | |
| XM_006710910.1:c.1705+56A>G | XP_006710973.1:n.1705+56A>G | |
| XM_011542179.1:c.2779+56A>G | XP_011540481.1:n.2779+56A>G | |
| XM_011542180.1:c.2779+56A>G | XP_011540482.1:n.2779+56A>G | |
| XM_011542181.1:c.2779+56A>G | XP_011540483.1:n.2779+56A>G | |
| XR_246296.1:n.2846+56A>G | ||
| XR_946763.1:n.3006+56A>G | ||
| XM_006710909.2:c.2779+56A>G | XP_006710972.1:n.2779+56A>G | |
| XM_011542179.2:c.2779+56A>G | XP_011540481.1:n.2779+56A>G | |
| XM_017002366.1:c.2794+56A>G | XP_016857855.1:n.2794+56A>G | |
| XM_017002367.1:c.2794+56A>G | XP_016857856.1:n.2794+56A>G | |
| XM_017002368.1:c.2794+56A>G | XP_016857857.1:n.2794+56A>G | |
| XM_017002369.2:c.2794+56A>G | XP_016857858.1:n.2794+56A>G | |
| XM_017002370.1:c.2794+56A>G | XP_016857859.1:n.2794+56A>G | |
| XM_017002371.1:c.2794+56A>G | XP_016857860.1:n.2794+56A>G | |
| XM_017002372.2:c.2779+56A>G | XP_016857861.1:n.2779+56A>G | |
| XM_017002374.1:c.1720+56A>G | XP_016857863.1:n.1720+56A>G | |
| XM_017002377.1:c.1705+56A>G | XP_016857866.1:n.1705+56A>G | |
| XM_017002378.1:c.1105+56A>G | XP_016857867.1:n.1105+56A>G | |
| XR_001737420.1:n.3021+56A>G | ||
| XR_001737423.1:n.2863+56A>G | ||
| XR_001737424.1:n.2861+56A>G | ||
| XR_001737426.1:n.2676+56A>G | ||
| XR_002957627.1:n.2878+56A>G | ||
| XR_946763.2:n.3006+56A>G | ||
| NM_024874.5:c.2779+56A>G MANE Select | NP_079150.3:n.2779+56A>G |