Linked Data
dbSNP Id:
rs780647095
ExAC:
15:50534725 G / A
gnomAD v2:
15-50534725-G-A
gnomAD v4:
15-50242528-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50242528G>A , CM000677.2:g.50242528G>A | GRCh38 |
| NC_000015.9:g.50534725G>A , CM000677.1:g.50534725G>A | GRCh37 |
| NC_000015.8:g.48322017G>A | NCBI36 |
| NG_027487.1:g.28438C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267845.8:c.1721C>T MANE Select | ENSP00000267845.3:p.Ser574Phe | |
| ENST00000267845.7:c.1721C>T | ENSP00000267845.3:p.Ser574Phe | |
| ENST00000543581.5:c.1622C>T | ENSP00000440252.1:p.Ser541Phe | |
| ENST00000559816.1:n.1465C>T | ||
| NM_001306146.1:c.1622C>T | NP_001293075.1:p.Ser541Phe | |
| NM_002112.3:c.1721C>T | NP_002103.2:p.Ser574Phe | |
| XM_011521479.1:c.1484C>T | XP_011519781.1:p.Ser495Phe | |
| XM_011521480.1:c.1289C>T | XP_011519782.1:p.Ser430Phe | |
| XM_017022094.1:c.1826C>T | XP_016877583.1:p.Ser609Phe | |
| XM_017022095.1:c.1727C>T | XP_016877584.1:p.Ser576Phe | |
| XM_017022096.1:c.1598C>T | XP_016877585.1:p.Ser533Phe | |
| XM_017022097.1:c.1589C>T | XP_016877586.1:p.Ser530Phe | |
| XM_017022098.1:c.1394C>T | XP_016877587.1:p.Ser465Phe | |
| NM_002112.4:c.1721C>T MANE Select | NP_002103.2:p.Ser574Phe | |
| NM_001306146.2:c.1622C>T | NP_001293075.1:p.Ser541Phe |