Linked Data
ClinVar Variation Id:
468298
dbSNP Id:
rs72646508
ExAC:
1:55518422 C / T
gnomAD v2:
1-55518422-C-T
gnomAD v3:
1-55052749-C-T
gnomAD v4:
1-55052749-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55052749C>T , CM000663.2:g.55052749C>T | GRCh38 |
| NC_000001.10:g.55518422C>T , CM000663.1:g.55518422C>T | GRCh37 |
| NC_000001.9:g.55291010C>T | NCBI36 |
| NG_009061.1:g.18203C>T , LRG_275:g.18203C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673913.2:c.757C>T | ENSP00000501161.2:p.Leu253Phe | |
| ENST00000710286.1:c.1114C>T | ENSP00000518176.1:p.Leu372Phe | |
| ENST00000673903.1:c.382C>T | ENSP00000501257.1:p.Leu128Phe | |
| ENST00000302118.5:c.757C>T MANE Select | ENSP00000303208.5:p.Leu253Phe | |
| ENST00000490692.1:n.1578C>T | ||
| NM_174936.3:c.757C>T , LRG_275t1:c.757C>T | NP_777596.2:p.Leu253Phe | |
| NR_110451.1:n.416C>T | ||
| NM_174936.4:c.757C>T MANE Select | NP_777596.2:p.Leu253Phe | |
| NR_110451.2:n.416C>T |