Linked Data
dbSNP Id:
rs2134236562
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775345T>C , CM000672.2:g.94775345T>C | GRCh38 |
| NC_000010.10:g.96535102T>C , CM000672.1:g.96535102T>C | GRCh37 |
| NC_000010.9:g.96525092T>C | NCBI36 |
| NG_008384.2:g.17640T>C | |
| NG_008384.3:g.17665T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.332-45T>C MANE Select | ENSP00000360372.3:n.332-45T>C | |
| ENST00000645461.1:n.1385-45T>C | ||
| ENST00000371321.7:c.332-45T>C | ENSP00000360372.3:n.332-45T>C | |
| ENST00000464755.1:c.1095-45T>C | ENSP00000483243.1:n.1095-45T>C | |
| ENST00000480405.2:c.332-45T>C | ENSP00000483847.1:n.332-45T>C | |
| NM_000769.2:c.332-45T>C | NP_000760.1:n.332-45T>C | |
| NM_000769.4:c.332-45T>C MANE Select | NP_000760.1:n.332-45T>C |