Linked Data
dbSNP Id:
rs3741378
ExAC:
11:65408937 C / T
gnomAD v2:
11-65408937-C-T
gnomAD v3:
11-65641466-C-T
gnomAD v4:
11-65641466-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65641466C>T , CM000673.2:g.65641466C>T | GRCh38 |
| NC_000011.9:g.65408937C>T , CM000673.1:g.65408937C>T | GRCh37 |
| NC_000011.8:g.65165513C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000534313.6:c.545C>T MANE Select | ENSP00000436269.1:p.Ser182Phe | |
| ENST00000394224.3:c.545C>T | ENSP00000377771.3:p.Ser182Phe | |
| ENST00000394227.7:c.545C>T | ENSP00000377774.4:p.Ser182Phe | |
| ENST00000527525.5:c.545C>T | ENSP00000433686.1:p.Ser182Phe | |
| ENST00000534313.5:c.545C>T | ENSP00000436269.1:p.Ser182Phe | |
| ENST00000628801.2:c.545C>T | ENSP00000485899.1:p.Ser182Phe | |
| NM_006747.3:c.545C>T | NP_006738.3:p.Ser182Phe | |
| NM_153253.29:c.545C>T | NP_694985.29:p.Ser182Phe | |
| XM_005274189.2:c.545C>T | XP_005274246.1:p.Ser182Phe | |
| XM_011545214.1:c.545C>T | XP_011543516.1:p.Ser182Phe | |
| XR_247210.2:n.654C>T | ||
| XR_950017.1:n.654C>T | ||
| NM_006747.4:c.545C>T MANE Select | NP_006738.3:p.Ser182Phe | |
| NM_153253.30:c.545C>T | NP_694985.29:p.Ser182Phe |