Linked Data
dbSNP Id:
rs755931562
ExAC:
14:29237734 T / C
gnomAD v2:
14-29237734-T-C
gnomAD v4:
14-28768528-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768528T>C , CM000676.2:g.28768528T>C | GRCh38 |
| NC_000014.8:g.29237734T>C , CM000676.1:g.29237734T>C | GRCh37 |
| NC_000014.7:g.28307485T>C | NCBI36 |
| NG_009367.1:g.6448T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.1249T>C | ENSP00000516406.1:p.Phe417Leu | |
| ENST00000313071.7:c.1249T>C MANE Select | ENSP00000339004.3:p.Phe417Leu | |
| ENST00000313071.6:c.1249T>C | ENSP00000339004.3:p.Phe417Leu | |
| NM_005249.4:c.1249T>C | NP_005240.3:p.Phe417Leu | |
| NM_005249.5:c.1249T>C MANE Select | NP_005240.3:p.Phe417Leu |