Linked Data
ClinVar Variation Id:
160039
dbSNP Id:
rs149217909
ExAC:
16:30750116 C / T
gnomAD v2:
16-30750116-C-T
gnomAD v3:
16-30738795-C-T
gnomAD v4:
16-30738795-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30738795C>T , CM000678.2:g.30738795C>T | GRCh38 |
| NC_000016.9:g.30750116C>T , CM000678.1:g.30750116C>T | GRCh37 |
| NC_000016.8:g.30657617C>T | NCBI36 |
| NG_032135.1:g.44655C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411466.7:c.8755C>T | ENSP00000405186.3:p.Leu2919Phe | |
| ENST00000704023.1:c.1758+840C>T | ||
| ENST00000706321.1:c.8755C>T | ENSP00000516346.1:p.Leu2919Phe | |
| ENST00000262518.9:c.8755C>T MANE Select | ENSP00000262518.4:p.Leu2919Phe | |
| ENST00000262518.8:c.8755C>T | ENSP00000262518.4:p.Leu2919Phe | |
| ENST00000380361.7:c.8224C>T | ENSP00000369719.3:p.Leu2742Phe | |
| ENST00000395059.6:c.7978C>T | ENSP00000378499.3:p.Leu2660Phe | |
| NM_006662.2:c.8755C>T | NP_006653.2:p.Leu2919Phe | |
| NM_006662.3:c.8755C>T MANE Select | NP_006653.2:p.Leu2919Phe |