Linked Data
dbSNP Id:
rs759943358
ExAC:
11:55579177 C / T
gnomAD v2:
11-55579177-C-T
gnomAD v3:
11-55811701-C-T
gnomAD v4:
11-55811701-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55811701C>T , CM000673.2:g.55811701C>T | GRCh38 |
| NC_000011.9:g.55579177C>T , CM000673.1:g.55579177C>T | GRCh37 |
| NC_000011.8:g.55335753C>T | NCBI36 |
| NG_052620.1:g.5335C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625203.2:c.235C>T MANE Select | ENSP00000485319.1:p.Pro79Ser | |
| ENST00000333973.3:c.235C>T | ENSP00000335529.2:p.Pro79Ser | |
| ENST00000623450.1:c.235C>T | ENSP00000485509.1:p.Pro79Ser | |
| ENST00000625203.1:c.235C>T | ENSP00000485319.1:p.Pro79Ser | |
| NM_001004738.1:c.235C>T | NP_001004738.1:p.Pro79Ser | |
| NM_001004738.2:c.235C>T MANE Select | NP_001004738.1:p.Pro79Ser |