Linked Data
dbSNP Id:
rs1952138
gnomAD v2:
10-53262633-C-T
gnomAD v3:
10-51502873-C-T
gnomAD v4:
10-51502873-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.51502873C>T , CM000672.2:g.51502873C>T | GRCh38 |
| NC_000010.10:g.53262633C>T , CM000672.1:g.53262633C>T | GRCh37 |
| NC_000010.9:g.52932639C>T | NCBI36 |
| NG_029982.1:g.516723C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373976.9:c.592+35037C>T | ENSP00000363087.4:n.592+35037C>T | |
| ENST00000373980.11:c.592+35037C>T MANE Select | ENSP00000363092.5:n.592+35037C>T | |
| ENST00000401604.8:c.547+35037C>T | ENSP00000384200.4:n.547+35037C>T | |
| ENST00000643582.1:c.592+35037C>T | ENSP00000495279.1:n.592+35037C>T | |
| ENST00000643704.1:c.592+35037C>T | ENSP00000496551.1:n.592+35037C>T | |
| ENST00000645324.1:c.592+35037C>T | ENSP00000494124.1:n.592+35037C>T | |
| ENST00000645790.1:n.114+35037C>T | ||
| ENST00000373976.8:c.166+35037C>T | ENSP00000363087.3:n.166+35037C>T | |
| ENST00000373980.8:c.592+35037C>T | ENSP00000363092.4:n.592+35037C>T | |
| ENST00000373985.5:c.547+35037C>T | ENSP00000363097.2:n.547+35037C>T | |
| NM_001098512.2:c.547+35037C>T | NP_001091982.1:n.547+35037C>T | |
| NM_006258.3:c.592+35037C>T | NP_006249.1:n.592+35037C>T | |
| XM_011539952.1:c.592+35037C>T | XP_011538254.1:n.592+35037C>T | |
| NM_001098512.3:c.547+35037C>T | NP_001091982.1:n.547+35037C>T | |
| NM_006258.4:c.592+35037C>T MANE Select | NP_006249.1:n.592+35037C>T | |
| XM_011539952.2:c.592+35037C>T | XP_011538254.1:n.592+35037C>T | |
| XM_017016412.1:c.307+35037C>T | XP_016871901.1:n.307+35037C>T | |
| XM_017016413.1:c.289+35037C>T | XP_016871902.1:n.289+35037C>T | |
| NM_001374782.1:c.592+35037C>T | NP_001361711.1:n.592+35037C>T |