Linked Data
dbSNP Id:
rs757490802
ExAC:
11:116703506 C / T
gnomAD v2:
11-116703506-C-T
gnomAD v4:
11-116832790-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832790C>T , CM000673.2:g.116832790C>T | GRCh38 |
| NC_000011.9:g.116703506C>T , CM000673.1:g.116703506C>T | GRCh37 |
| NC_000011.8:g.116208716C>T | NCBI36 |
| NG_008949.1:g.7883C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.206C>T MANE Select | ENSP00000227667.2:p.Ser69Phe | |
| ENST00000227667.7:c.206C>T | ENSP00000227667.2:p.Ser69Phe | |
| ENST00000375345.3:c.260C>T | ENSP00000364494.1:p.Ser87Phe | |
| ENST00000630701.1:c.260C>T | ENSP00000486182.1:p.Ser87Phe | |
| NM_000040.1:c.206C>T | NP_000031.1:p.Ser69Phe | |
| NM_000040.2:c.206C>T | NP_000031.1:p.Ser69Phe | |
| NM_000040.3:c.206C>T MANE Select | NP_000031.1:p.Ser69Phe |