Linked Data
dbSNP Id:
rs748632820
ExAC:
16:21721317 C / T
gnomAD v2:
16-21721317-C-T
gnomAD v4:
16-21709996-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21709996C>T , CM000678.2:g.21709996C>T | GRCh38 |
| NC_000016.9:g.21721317C>T , CM000678.1:g.21721317C>T | GRCh37 |
| NC_000016.8:g.21628818C>T | NCBI36 |
| NG_012973.1:g.36483C>T | |
| NG_012973.2:g.50864C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388958.8:c.1213C>T | ENSP00000373610.3:p.Leu405Phe | |
| ENST00000646100.2:c.1213C>T MANE Select | ENSP00000496564.2:p.Leu405Phe | |
| ENST00000647277.1:c.*27C>T | ENSP00000495594.1:n.*27C>T | |
| ENST00000286149.8:c.1255C>T | ENSP00000286149.4:p.Leu419Phe | |
| ENST00000388956.8:c.976C>T | ENSP00000373608.4:p.Leu326Phe | |
| ENST00000388957.3:c.241C>T | ENSP00000373609.3:p.Leu81Phe | |
| ENST00000388958.7:c.1213C>T | ENSP00000373610.3:p.Leu405Phe | |
| ENST00000563871.5:n.433C>T | ||
| NM_001161683.1:c.976C>T | NP_001155155.1:p.Leu326Phe | |
| NM_144672.3:c.1213C>T | NP_653273.3:p.Leu405Phe | |
| NM_170664.2:c.241C>T | NP_733764.1:p.Leu81Phe | |
| XM_011545747.1:c.1213C>T | XP_011544049.1:p.Leu405Phe | |
| XM_011545748.1:c.82C>T | XP_011544050.1:p.Leu28Phe | |
| NM_144672.4:c.1213C>T MANE Select | NP_653273.3:p.Leu405Phe | |
| XM_011545748.2:c.82C>T | XP_011544050.2:p.Leu28Phe | |
| XR_002957775.1:n.308C>T | ||
| NM_001161683.2:c.976C>T | NP_001155155.1:p.Leu326Phe | |
| NM_170664.3:c.241C>T | NP_733764.1:p.Leu81Phe |