Linked Data
ClinVar Variation Id:
235234
dbSNP Id:
rs9959296
ExAC:
18:10752860 G / A
gnomAD v2:
18-10752860-G-A
gnomAD v3:
18-10752862-G-A
gnomAD v4:
18-10752862-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10752862G>A , CM000680.2:g.10752862G>A | GRCh38 |
| NC_000018.9:g.10752860G>A , CM000680.1:g.10752860G>A | GRCh37 |
| NC_000018.8:g.10742860G>A | NCBI36 |
| NG_034005.1:g.400901C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383408.7:c.3941C>T | ENSP00000372900.4:p.Ser1314Phe | |
| ENST00000686869.1:n.3998C>T | ||
| ENST00000674853.1:c.3941C>T MANE Select | ENSP00000501957.1:p.Ser1314Phe | |
| ENST00000302079.10:c.3866C>T | ENSP00000303316.6:p.Ser1289Phe | |
| ENST00000383408.6:c.3719C>T | ENSP00000372900.3:p.Ser1240Phe | |
| ENST00000503781.7:c.3866C>T | ENSP00000421377.3:p.Ser1289Phe | |
| ENST00000580640.5:c.3941C>T | ENSP00000463094.1:p.Ser1314Phe | |
| ENST00000582913.5:c.3908C>T | ENSP00000462115.1:p.Ser1303Phe | |
| NM_022068.3:c.3866C>T | NP_071351.2:p.Ser1289Phe | |
| XM_011525723.1:c.3998C>T | XP_011524025.1:p.Ser1333Phe | |
| XM_011525724.1:c.3941C>T | XP_011524026.1:p.Ser1314Phe | |
| XM_011525725.1:c.3908C>T | XP_011524027.1:p.Ser1303Phe | |
| XM_011525726.1:c.3998C>T | XP_011524028.1:p.Ser1333Phe | |
| XM_011525727.1:c.3998C>T | XP_011524029.1:p.Ser1333Phe | |
| XM_011525723.3:c.3998C>T | XP_011524025.1:p.Ser1333Phe | |
| XM_011525724.3:c.3941C>T | XP_011524026.1:p.Ser1314Phe | |
| XM_011525725.3:c.3908C>T | XP_011524027.1:p.Ser1303Phe | |
| XM_011525726.3:c.3998C>T | XP_011524028.1:p.Ser1333Phe | |
| XM_017025918.2:c.3959C>T | XP_016881407.1:p.Ser1320Phe | |
| XR_001753259.2:n.4995C>T | ||
| NM_001378183.1:c.3941C>T MANE Select | NP_001365112.1:p.Ser1314Phe | |
| NM_022068.4:c.3866C>T | NP_071351.2:p.Ser1289Phe |