Linked Data
dbSNP Id:
rs765152357
ExAC:
12:56351038 G / A
gnomAD v2:
12-56351038-G-A
gnomAD v3:
12-55957254-G-A
gnomAD v4:
12-55957254-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55957254G>A , CM000674.2:g.55957254G>A | GRCh38 |
| NC_000012.11:g.56351038G>A , CM000674.1:g.56351038G>A | GRCh37 |
| NC_000012.10:g.54637305G>A | NCBI36 |
| NG_028086.1:g.14459C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000548747.6:c.1049C>T MANE Select | ENSP00000448828.1:p.Ser350Phe | |
| ENST00000449260.6:c.1049C>T | ENSP00000402758.2:p.Ser350Phe | |
| ENST00000547137.5:c.887C>T | ENSP00000448849.1:p.Ser296Phe | |
| ENST00000548493.5:c.1049C>T | ENSP00000447374.1:p.Ser350Phe | |
| ENST00000548747.5:c.1049C>T | ENSP00000448828.1:p.Ser350Phe | |
| ENST00000548803.5:c.602C>T | ENSP00000447732.1:p.Ser201Phe | |
| ENST00000549404.5:c.711C>T | ||
| ENST00000549564.1:n.89C>T | ||
| ENST00000550447.5:c.358+1219C>T | ENSP00000448029.1:n.358+1219C>T | |
| ENST00000550464.5:c.791C>T | ENSP00000450036.1:p.Ser264Phe | |
| ENST00000552882.5:c.1049C>T | ENSP00000449690.1:p.Ser350Phe | |
| NM_001200053.1:c.791C>T | NP_001186982.1:p.Ser264Phe | |
| NM_001200054.1:c.1049C>T | NP_001186983.1:p.Ser350Phe | |
| NM_006928.4:c.1049C>T | NP_008859.1:p.Ser350Phe | |
| XM_006719569.1:c.1049C>T | XP_006719632.1:p.Ser350Phe | |
| XM_011538685.1:c.1049C>T | XP_011536987.1:p.Ser350Phe | |
| XM_011538686.1:c.1049C>T | XP_011536988.1:p.Ser350Phe | |
| XM_011538687.1:c.1049C>T | XP_011536989.1:p.Ser350Phe | |
| NM_001320121.1:c.1049C>T | NP_001307050.1:p.Ser350Phe | |
| NM_001320122.1:c.1049C>T | NP_001307051.1:p.Ser350Phe | |
| NM_001384361.1:c.1049C>T MANE Select | NP_001371290.1:p.Ser350Phe | |
| NM_006928.5:c.1049C>T | NP_008859.1:p.Ser350Phe |