Linked Data
ClinVar Variation Id:
311281
ClinVar RCV Id:
RCV000373557
dbSNP Id:
rs775241064
ExAC:
13:113803590 C / T
gnomAD v2:
13-113803590-C-T
gnomAD v3:
13-113149276-C-T
gnomAD v4:
13-113149276-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113149276C>T , CM000675.2:g.113149276C>T | GRCh38 |
| NC_000013.10:g.113803590C>T , CM000675.1:g.113803590C>T | GRCh37 |
| NC_000013.9:g.112851591C>T | NCBI36 |
| NG_009258.1:g.31478C>T , LRG_548:g.31478C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375559.8:c.1226C>T MANE Select | ENSP00000364709.3:p.Thr409Ile | |
| ENST00000375551.7:c.*217C>T | ENSP00000364701.3:n.*217C>T | |
| ENST00000375559.7:c.1226C>T | ENSP00000364709.3:p.Thr409Ile | |
| ENST00000409306.5:c.*217C>T | ENSP00000387092.1:n.*217C>T | |
| NM_000504.3:c.1226C>T , LRG_548t1:c.1226C>T | NP_000495.1:p.Thr409Ile | |
| NM_001312674.1:c.1094C>T | NP_001299603.1:p.Thr365Ile | |
| NM_001312675.1:c.*217C>T | NP_001299604.1:n.*217C>T | |
| NM_000504.4:c.1226C>T MANE Select | NP_000495.1:p.Thr409Ile | |
| NM_001312674.2:c.1094C>T | NP_001299603.1:p.Thr365Ile | |
| NM_001312675.2:c.*217C>T | NP_001299604.1:n.*217C>T |