Linked Data
dbSNP Id:
rs772311346
ExAC:
10:75830860 C / T
gnomAD v2:
10-75830860-C-T
gnomAD v4:
10-74071102-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74071102C>T , CM000672.2:g.74071102C>T | GRCh38 |
| NC_000010.10:g.75830860C>T , CM000672.1:g.75830860C>T | GRCh37 |
| NC_000010.9:g.75500866C>T | NCBI36 |
| NG_008868.1:g.77989C>T , LRG_383:g.77989C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211998.10:c.499+19C>T MANE Select | ENSP00000211998.5:n.499+19C>T | |
| ENST00000211998.8:c.499+19C>T | ENSP00000211998.4:n.499+19C>T | |
| ENST00000372755.7:c.499+19C>T | ENSP00000361841.3:n.499+19C>T | |
| ENST00000478896.2:n.331+27949C>T | ||
| ENST00000623461.3:n.457+19C>T | ||
| ENST00000624354.3:c.*254+19C>T | ENSP00000485551.1:n.*254+19C>T | |
| NM_003373.3:c.499+19C>T | NP_003364.1:n.499+19C>T | |
| NM_014000.2:c.499+19C>T , LRG_383t1:c.499+19C>T | NP_054706.1:n.499+19C>T | |
| XM_005270142.1:c.499+19C>T | XP_005270199.1:n.499+19C>T | |
| XM_005270143.1:c.499+19C>T | XP_005270200.1:n.499+19C>T | |
| NM_003373.4:c.499+19C>T | NP_003364.1:n.499+19C>T | |
| NM_014000.3:c.499+19C>T MANE Select | NP_054706.1:n.499+19C>T |