Linked Data
dbSNP Id:
rs762401051
ExAC:
10:50678594 T / G
gnomAD v2:
10-50678594-T-G
gnomAD v4:
10-49470548-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470548T>G , CM000672.2:g.49470548T>G | GRCh38 |
| NC_000010.10:g.50678594T>G , CM000672.1:g.50678594T>G | GRCh37 |
| NC_000010.9:g.50348600T>G | NCBI36 |
| NG_009442.1:g.73554A>C , LRG_465:g.73554A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3412A>C MANE Select | ENSP00000348089.5:p.Thr1138Pro | |
| ENST00000679552.1:n.483A>C | ||
| ENST00000679871.1:n.558A>C | ||
| ENST00000679974.1:n.461A>C | ||
| ENST00000681632.1:n.4815A>C | ||
| ENST00000681659.1:c.3253A>C | ENSP00000505631.1:p.Thr1085Pro | |
| ENST00000355832.9:c.3412A>C | ENSP00000348089.5:p.Thr1138Pro | |
| ENST00000623073.3:c.*1708A>C | ENSP00000485650.1:n.*1708A>C | |
| ENST00000623115.3:c.1522A>C | ENSP00000485321.1:p.Thr508Pro | |
| ENST00000624341.3:c.1244A>C | ||
| NM_000124.3:c.3412A>C | NP_000115.1:p.Thr1138Pro | |
| XR_945953.1:n.243-1017T>G | ||
| NM_001346440.1:c.3412A>C | NP_001333369.1:p.Thr1138Pro | |
| NM_000124.4:c.3412A>C MANE Select | NP_000115.1:p.Thr1138Pro | |
| NM_001346440.2:c.3412A>C | NP_001333369.1:p.Thr1138Pro |