Linked Data
dbSNP Id:
rs752500500
ExAC:
4:81207824 T / C
gnomAD v2:
4-81207824-T-C
gnomAD v4:
4-80286670-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80286670T>C , CM000666.2:g.80286670T>C | GRCh38 |
| NC_000004.11:g.81207824T>C , CM000666.1:g.81207824T>C | GRCh37 |
| NC_000004.10:g.81426848T>C | NCBI36 |
| NG_029501.1:g.25083T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312465.12:c.805T>C MANE Select | ENSP00000311697.7:p.Ter269Gln | |
| ENST00000312465.11:c.805T>C | ENSP00000311697.7:p.Ter269Gln | |
| ENST00000456523.3:c.*329T>C | ENSP00000398353.3:n.*329T>C | |
| ENST00000503413.1:n.754T>C | ||
| ENST00000507780.1:c.342+11658T>C | ENSP00000423903.1:n.342+11658T>C | |
| NM_001291812.1:c.376T>C | NP_001278741.1:p.Ter126Gln | |
| NM_004464.3:c.805T>C | NP_004455.2:p.Ter269Gln | |
| NM_033143.2:c.*329T>C | NP_149134.1:n.*329T>C | |
| NM_001291812.2:c.376T>C | NP_001278741.1:p.Ter126Gln | |
| NM_004464.4:c.805T>C MANE Select | NP_004455.2:p.Ter269Gln |