Linked Data
ClinVar Variation Id:
2060388
ClinVar RCV Id:
RCV002938774
dbSNP Id:
rs751786870
ExAC:
10:50701279 T / C
gnomAD v2:
10-50701279-T-C
gnomAD v4:
10-49493233-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49493233T>C , CM000672.2:g.49493233T>C | GRCh38 |
| NC_000010.10:g.50701279T>C , CM000672.1:g.50701279T>C | GRCh37 |
| NC_000010.9:g.50371285T>C | NCBI36 |
| NG_009442.1:g.50869A>G , LRG_465:g.50869A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1705A>G MANE Select | ENSP00000348089.5:p.Thr569Ala | |
| ENST00000681632.1:n.1783A>G | ||
| ENST00000681659.1:c.1546A>G | ENSP00000505631.1:p.Thr516Ala | |
| ENST00000355832.9:c.1705A>G | ENSP00000348089.5:p.Thr569Ala | |
| ENST00000475116.1:n.275+7305A>G | ||
| ENST00000623073.3:c.106A>G | ENSP00000485650.1:p.Thr36Ala | |
| ENST00000623115.3:c.-70+7305A>G | ENSP00000485321.1:n.-70+7305A>G | |
| ENST00000623318.1:c.106A>G | ENSP00000485423.1:p.Thr36Ala | |
| NM_000124.3:c.1705A>G | NP_000115.1:p.Thr569Ala | |
| NM_001346440.1:c.1705A>G | NP_001333369.1:p.Thr569Ala | |
| NM_000124.4:c.1705A>G MANE Select | NP_000115.1:p.Thr569Ala | |
| NM_001346440.2:c.1705A>G | NP_001333369.1:p.Thr569Ala |