Linked Data
dbSNP Id:
rs747093931
gnomAD v2:
15-44890764-A-G
gnomAD v3:
15-44598566-A-G
gnomAD v4:
15-44598566-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44598566A>G , CM000677.2:g.44598566A>G | GRCh38 |
| NC_000015.9:g.44890764A>G , CM000677.1:g.44890764A>G | GRCh37 |
| NC_000015.8:g.42678056A>G | NCBI36 |
| NG_008885.1:g.70113T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.3892+65T>C | ENSP00000453246.2:n.3892+65T>C | |
| ENST00000682065.1:c.3892+65T>C | ENSP00000507025.1:n.3892+65T>C | |
| ENST00000682460.1:c.*312+65T>C | ENSP00000508334.1:n.*312+65T>C | |
| ENST00000682495.1:c.*384+65T>C | ENSP00000507166.1:n.*384+65T>C | |
| ENST00000682669.1:c.3691+65T>C | ENSP00000507782.1:n.3691+65T>C | |
| ENST00000682788.1:c.3892+65T>C | ENSP00000508089.1:n.3892+65T>C | |
| ENST00000683121.1:c.3892+65T>C | ENSP00000507557.1:n.3892+65T>C | |
| ENST00000683186.1:c.*655+65T>C | ENSP00000507268.1:n.*655+65T>C | |
| ENST00000683496.1:c.3892+65T>C | ENSP00000506968.1:n.3892+65T>C | |
| ENST00000683734.1:c.3892+65T>C | ENSP00000508319.1:n.3892+65T>C | |
| ENST00000683753.1:n.2938+65T>C | ||
| ENST00000683838.1:n.966+65T>C | ||
| ENST00000684038.1:c.*312+65T>C | ENSP00000507141.1:n.*312+65T>C | |
| ENST00000684235.1:c.3892+65T>C | ENSP00000508295.1:n.3892+65T>C | |
| ENST00000684676.1:c.3892+65T>C | ENSP00000506948.1:n.3892+65T>C | |
| ENST00000261866.12:c.3892+65T>C MANE Select | ENSP00000261866.7:n.3892+65T>C | |
| ENST00000261866.11:c.3892+65T>C | ENSP00000261866.7:n.3892+65T>C | |
| ENST00000427534.6:c.3892+65T>C | ENSP00000396110.2:n.3892+65T>C | |
| ENST00000535302.6:c.3892+65T>C | ENSP00000445278.2:n.3892+65T>C | |
| ENST00000558093.1:n.506+65T>C | ||
| ENST00000558319.5:c.3892+65T>C | ENSP00000453599.1:n.3892+65T>C | |
| ENST00000558561.1:n.114T>C | ||
| NM_001160227.1:c.3892+65T>C | NP_001153699.1:n.3892+65T>C | |
| NM_025137.3:c.3892+65T>C | NP_079413.3:n.3892+65T>C | |
| XM_005254695.3:c.3634+65T>C | XP_005254752.1:n.3634+65T>C | |
| XM_006720700.1:c.3892+65T>C | XP_006720763.1:n.3892+65T>C | |
| XM_006720701.2:c.3892+65T>C | XP_006720764.1:n.3892+65T>C | |
| XM_011522093.1:c.3687-193T>C | XP_011520395.1:n.3687-193T>C | |
| XR_931917.1:n.3923+65T>C | ||
| XM_006720701.3:c.3892+65T>C | XP_006720764.1:n.3892+65T>C | |
| XM_017022634.1:c.3892+65T>C | XP_016878123.1:n.3892+65T>C | |
| XM_017022635.2:c.3892+65T>C | XP_016878124.1:n.3892+65T>C | |
| XM_017022636.1:c.769+65T>C | XP_016878125.1:n.769+65T>C | |
| XR_001751402.1:n.3718-193T>C | ||
| XR_931917.2:n.3923+65T>C | ||
| NM_025137.4:c.3892+65T>C MANE Select | NP_079413.3:n.3892+65T>C | |
| NM_001160227.2:c.3892+65T>C | NP_001153699.1:n.3892+65T>C |