Linked Data
ClinVar Variation Id:
1404933
ClinVar RCV Id:
RCV001899136
dbSNP Id:
rs1382167986
gnomAD v4:
9-74685557-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.74685557C>T , CM000671.2:g.74685557C>T | GRCh38 |
| NC_000009.11:g.77300473C>T , CM000671.1:g.77300473C>T | GRCh37 |
| NC_000009.10:g.76490293C>T | NCBI36 |
| NG_046926.2:g.193222C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376896.8:c.1319C>T MANE Select | ENSP00000366093.2:p.Thr440Ile | |
| ENST00000376896.7:c.1319C>T | ENSP00000366093.2:p.Thr440Ile | |
| ENST00000396204.2:c.1352C>T | ENSP00000379507.2:p.Thr451Ile | |
| NM_006914.3:c.1319C>T | NP_008845.2:p.Thr440Ile | |
| NM_001365023.1:c.1352C>T | NP_001351952.1:p.Thr451Ile | |
| NM_006914.4:c.1319C>T MANE Select | NP_008845.2:p.Thr440Ile |