Linked Data
ClinVar Variation Id:
966717
dbSNP Id:
rs763011436
ExAC:
1:197404379 C / T
gnomAD v2:
1-197404379-C-T
gnomAD v4:
1-197435249-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197435249C>T , CM000663.2:g.197435249C>T | GRCh38 |
| NC_000001.10:g.197404379C>T , CM000663.1:g.197404379C>T | GRCh37 |
| NC_000001.9:g.195671002C>T | NCBI36 |
| NG_008483.1:g.171972C>T | |
| NG_008483.2:g.238788C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.3386C>T MANE Select | ENSP00000356370.3:p.Ser1129Phe | |
| ENST00000638467.1:c.3386C>T | ENSP00000491102.1:p.Ser1129Phe | |
| ENST00000681519.1:c.2267C>T | ENSP00000505267.1:p.Ser756Phe | |
| ENST00000367397.1:c.1529C>T | ENSP00000356367.1:p.Ser510Phe | |
| ENST00000367399.6:c.3050C>T | ENSP00000356369.2:p.Ser1017Phe | |
| ENST00000367400.7:c.3386C>T | ENSP00000356370.3:p.Ser1129Phe | |
| ENST00000484075.5:c.3386C>T | ENSP00000433932.1:p.Ser1129Phe | |
| ENST00000535699.5:c.3314C>T | ENSP00000438786.1:p.Ser1105Phe | |
| ENST00000538660.5:c.2129-351C>T | ENSP00000438091.1:n.2129-351C>T | |
| NM_001193640.1:c.3050C>T | NP_001180569.1:p.Ser1017Phe | |
| NM_001257965.1:c.3314C>T | NP_001244894.1:p.Ser1105Phe | |
| NM_001257966.1:c.2129-351C>T | NP_001244895.1:n.2129-351C>T | |
| NM_201253.2:c.3386C>T | NP_957705.1:p.Ser1129Phe | |
| NR_047563.1:n.3387C>T | ||
| NR_047564.1:n.3595C>T | ||
| XM_011509365.1:c.3386C>T | XP_011507667.1:p.Ser1129Phe | |
| XM_011509366.1:c.3386C>T | XP_011507668.1:p.Ser1129Phe | |
| XM_011509367.1:c.3386C>T | XP_011507669.1:p.Ser1129Phe | |
| XM_011509368.1:c.2804C>T | XP_011507670.1:p.Ser935Phe | |
| XM_011509369.1:c.1829C>T | XP_011507671.1:p.Ser610Phe | |
| XM_011509365.2:c.3386C>T | XP_011507667.1:p.Ser1129Phe | |
| XM_011509369.2:c.1829C>T | XP_011507671.1:p.Ser610Phe | |
| XM_017000851.1:c.2543C>T | XP_016856340.1:p.Ser848Phe | |
| XM_017000852.1:c.3521C>T | XP_016856341.1:p.Ser1174Phe | |
| NM_201253.3:c.3386C>T MANE Select | NP_957705.1:p.Ser1129Phe | |
| NM_001193640.2:c.3050C>T | NP_001180569.1:p.Ser1017Phe | |
| NM_001257965.2:c.3314C>T | NP_001244894.1:p.Ser1105Phe | |
| NR_047563.2:n.3339C>T | ||
| NR_047564.2:n.3547C>T | ||
| NM_001257966.2:c.2129-351C>T | NP_001244895.1:n.2129-351C>T |