Linked Data
dbSNP Id:
rs1223229970
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120738820T>C , CM000674.2:g.120738820T>C | GRCh38 |
| NC_000012.11:g.121176623T>C , CM000674.1:g.121176623T>C | GRCh37 |
| NC_000012.10:g.119661006T>C | NCBI36 |
| NG_007991.1:g.18053T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.934T>C MANE Select | ENSP00000242592.4:p.Phe312Leu | |
| ENST00000242592.8:c.934T>C | ENSP00000242592.4:p.Phe312Leu | |
| ENST00000411593.2:c.922T>C | ENSP00000401045.2:p.Phe308Leu | |
| NM_000017.3:c.934T>C | NP_000008.1:p.Phe312Leu | |
| NM_001302554.1:c.922T>C | NP_001289483.1:p.Phe308Leu | |
| NM_000017.4:c.934T>C MANE Select | NP_000008.1:p.Phe312Leu | |
| NM_001302554.2:c.922T>C | NP_001289483.1:p.Phe308Leu |