Linked Data
ClinVar Variation Id:
1918690
dbSNP Id:
rs1851207691
gnomAD v3:
10-49493226-A-G
gnomAD v4:
10-49493226-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49493226A>G , CM000672.2:g.49493226A>G | GRCh38 |
| NC_000010.10:g.50701272A>G , CM000672.1:g.50701272A>G | GRCh37 |
| NC_000010.9:g.50371278A>G | NCBI36 |
| NG_009442.1:g.50876T>C , LRG_465:g.50876T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1712T>C MANE Select | ENSP00000348089.5:p.Ile571Thr | |
| ENST00000681632.1:n.1790T>C | ||
| ENST00000681659.1:c.1553T>C | ENSP00000505631.1:p.Ile518Thr | |
| ENST00000355832.9:c.1712T>C | ENSP00000348089.5:p.Ile571Thr | |
| ENST00000475116.1:n.275+7312T>C | ||
| ENST00000623073.3:c.113T>C | ENSP00000485650.1:p.Ile38Thr | |
| ENST00000623115.3:c.-70+7312T>C | ENSP00000485321.1:n.-70+7312T>C | |
| ENST00000623318.1:c.113T>C | ENSP00000485423.1:p.Ile38Thr | |
| NM_000124.3:c.1712T>C | NP_000115.1:p.Ile571Thr | |
| NM_001346440.1:c.1712T>C | NP_001333369.1:p.Ile571Thr | |
| NM_000124.4:c.1712T>C MANE Select | NP_000115.1:p.Ile571Thr | |
| NM_001346440.2:c.1712T>C | NP_001333369.1:p.Ile571Thr |