Linked Data
dbSNP Id:
rs1596827048
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278298T>G , CM000678.2:g.2278298T>G | GRCh38 |
| NC_000016.9:g.2328299T>G , CM000678.1:g.2328299T>G | GRCh37 |
| NC_000016.8:g.2268300T>G | NCBI36 |
| NG_011790.1:g.67449A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4708A>C MANE Select | ENSP00000301732.5:p.Thr1570Pro | |
| ENST00000301732.9:c.4708A>C | ENSP00000301732.5:p.Thr1570Pro | |
| ENST00000382381.7:c.4534A>C | ENSP00000371818.3:p.Thr1512Pro | |
| ENST00000566200.1:n.1229A>C | ||
| NM_001089.2:c.4708A>C | NP_001080.2:p.Thr1570Pro | |
| NM_001089.3:c.4708A>C MANE Select | NP_001080.2:p.Thr1570Pro |