Linked Data
dbSNP Id:
rs187971500
gnomAD v2:
10-105884166-C-T
gnomAD v3:
10-104124408-C-T
gnomAD v4:
10-104124408-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104124408C>T , CM000672.2:g.104124408C>T | GRCh38 |
| NC_000010.10:g.105884166C>T , CM000672.1:g.105884166C>T | GRCh37 |
| NC_000010.9:g.105874156C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369727.4:c.546+284C>T MANE Select | ENSP00000358742.3:n.546+284C>T | |
| ENST00000369727.3:c.546+284C>T | ENSP00000358742.3:n.546+284C>T | |
| ENST00000369729.7:c.507+284C>T | ENSP00000358744.3:n.507+284C>T | |
| NM_001002759.1:c.546+284C>T | NP_001002759.1:n.546+284C>T | |
| NM_145247.4:c.507+284C>T | NP_660290.3:n.507+284C>T | |
| XM_005269521.2:c.732+284C>T | XP_005269578.1:n.732+284C>T | |
| XM_005269521.3:c.732+284C>T | XP_005269578.1:n.732+284C>T | |
| XM_017015672.1:c.507+284C>T | XP_016871161.1:n.507+284C>T | |
| NM_001002759.2:c.546+284C>T MANE Select | NP_001002759.1:n.546+284C>T | |
| NM_001384829.1:c.507+284C>T | NP_001371758.1:n.507+284C>T | |
| NM_001384830.1:c.507+284C>T | NP_001371759.1:n.507+284C>T | |
| NM_145247.5:c.507+284C>T | NP_660290.3:n.507+284C>T |