Linked Data
dbSNP Id:
rs1188673494
gnomAD v2:
7-27135220-G-T
gnomAD v3:
7-27095601-G-T
gnomAD v4:
7-27095601-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095601G>T , CM000669.2:g.27095601G>T | GRCh38 |
| NC_000007.13:g.27135220G>T , CM000669.1:g.27135220G>T | GRCh37 |
| NC_000007.12:g.27101745G>T | NCBI36 |
| NG_011813.1:g.5406C>A | |
| NG_033087.1:g.4508G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643460.2:c.312C>A MANE Select | ENSP00000494260.2:p.Phe104Leu | |
| ENST00000343060.4:c.312C>A | ENSP00000343246.4:p.Phe104Leu | |
| ENST00000355633.5:c.312C>A | ENSP00000347851.5:p.Phe104Leu | |
| NM_005522.4:c.312C>A | NP_005513.1:p.Phe104Leu | |
| NM_153620.2:c.312C>A | NP_705873.2:p.Phe104Leu | |
| NM_005522.5:c.312C>A MANE Select | NP_005513.2:p.Phe104Leu | |
| NM_153620.3:c.312C>A | NP_705873.3:p.Phe104Leu |