Linked Data
dbSNP Id:
rs776356526
ExAC:
14:23844856 C / T
gnomAD v2:
14-23844856-C-T
gnomAD v4:
14-23375647-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23375647C>T , CM000676.2:g.23375647C>T | GRCh38 |
| NC_000014.8:g.23844856C>T , CM000676.1:g.23844856C>T | GRCh37 |
| NC_000014.7:g.22914696C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397242.3:c.253C>T MANE Select | ENSP00000380417.2:p.Leu85Phe | |
| ENST00000329715.2:c.301C>T | ENSP00000328111.2:p.Leu101Phe | |
| ENST00000397242.2:c.253C>T | ENSP00000380417.2:p.Leu85Phe | |
| NM_022789.3:c.301C>T | NP_073626.1:p.Leu101Phe | |
| NM_172314.1:c.253C>T | NP_758525.1:p.Leu85Phe |