Linked Data
dbSNP Id:
rs758384061
ExAC:
4:81207759 T / C
gnomAD v2:
4-81207759-T-C
gnomAD v3:
4-80286605-T-C
gnomAD v4:
4-80286605-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80286605T>C , CM000666.2:g.80286605T>C | GRCh38 |
| NC_000004.11:g.81207759T>C , CM000666.1:g.81207759T>C | GRCh37 |
| NC_000004.10:g.81426783T>C | NCBI36 |
| NG_029501.1:g.25018T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312465.12:c.740T>C MANE Select | ENSP00000311697.7:p.Ile247Thr | |
| ENST00000312465.11:c.740T>C | ENSP00000311697.7:p.Ile247Thr | |
| ENST00000456523.3:c.*264T>C | ENSP00000398353.3:n.*264T>C | |
| ENST00000503413.1:n.689T>C | ||
| ENST00000507780.1:c.342+11593T>C | ENSP00000423903.1:n.342+11593T>C | |
| NM_001291812.1:c.311T>C | NP_001278741.1:p.Ile104Thr | |
| NM_004464.3:c.740T>C | NP_004455.2:p.Ile247Thr | |
| NM_033143.2:c.*264T>C | NP_149134.1:n.*264T>C | |
| NM_001291812.2:c.311T>C | NP_001278741.1:p.Ile104Thr | |
| NM_004464.4:c.740T>C MANE Select | NP_004455.2:p.Ile247Thr |