Linked Data
dbSNP Id:
rs774036527
ExAC:
22:43558935 C / T
gnomAD v2:
22-43558935-C-T
gnomAD v3:
22-43162929-C-T
gnomAD v4:
22-43162929-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43162929C>T , CM000684.2:g.43162929C>T | GRCh38 |
| NC_000022.10:g.43558935C>T , CM000684.1:g.43558935C>T | GRCh37 |
| NC_000022.9:g.41888879C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337554.8:c.448C>T MANE Select | ENSP00000338004.3:p.Leu150Phe | |
| ENST00000329563.8:c.448C>T | ENSP00000328973.4:p.Leu150Phe | |
| ENST00000337554.7:c.448C>T | ENSP00000338004.3:p.Leu150Phe | |
| ENST00000396265.4:c.448C>T | ENSP00000379563.4:p.Leu150Phe | |
| ENST00000583777.5:c.136C>T | ENSP00000463495.1:p.Leu46Phe | |
| NM_000714.5:c.448C>T | NP_000705.2:p.Leu150Phe | |
| NM_001256530.1:c.448C>T | NP_001243459.1:p.Leu150Phe | |
| NM_001256531.1:c.448C>T | NP_001243460.1:p.Leu150Phe | |
| NR_046308.1:n.357C>T | ||
| NM_000714.6:c.448C>T MANE Select | NP_000705.2:p.Leu150Phe | |
| NR_046308.2:n.312C>T |