Linked Data
dbSNP Id:
rs10082235
gnomAD v2:
1-153656650-C-T
gnomAD v3:
1-153684174-C-T
gnomAD v4:
1-153684174-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153684174C>T , CM000663.2:g.153684174C>T | GRCh38 |
| NC_000001.10:g.153656650C>T , CM000663.1:g.153656650C>T | GRCh37 |
| NC_000001.9:g.151923274C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368680.4:c.1484+350C>T MANE Select | ENSP00000357669.3:n.1484+350C>T | |
| ENST00000368680.3:c.1484+350C>T | ENSP00000357669.3:n.1484+350C>T | |
| NM_000906.3:c.1484+350C>T | NP_000897.3:n.1484+350C>T | |
| XM_005245218.1:c.1484+350C>T | XP_005245275.1:n.1484+350C>T | |
| XM_006711342.1:c.1484+350C>T | XP_006711405.1:n.1484+350C>T | |
| XM_006711343.1:c.1484+350C>T | XP_006711406.1:n.1484+350C>T | |
| XM_011509585.1:c.1484+350C>T | XP_011507887.1:n.1484+350C>T | |
| XM_005245218.2:c.1484+350C>T | XP_005245275.1:n.1484+350C>T | |
| XM_017001374.2:c.1484+350C>T | XP_016856863.1:n.1484+350C>T | |
| NM_000906.4:c.1484+350C>T MANE Select | NP_000897.3:n.1484+350C>T |