Linked Data
dbSNP Id:
rs758970992
ExAC:
5:1213685 C / T
gnomAD v2:
5-1213685-C-T
gnomAD v4:
5-1213570-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213570C>T , CM000667.2:g.1213570C>T | GRCh38 |
| NC_000005.9:g.1213685C>T , CM000667.1:g.1213685C>T | GRCh37 |
| NC_000005.8:g.1266685C>T | NCBI36 |
| NG_008282.1:g.16976C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.771C>T MANE Select | ENSP00000305302.10:p.Pro257= | |
| ENST00000304460.10:c.771C>T | ENSP00000305302.10:p.Pro257= | |
| ENST00000515652.5:c.679C>T | ENSP00000425701.1:p.Gln227Ter | |
| NM_001003841.2:c.771C>T | NP_001003841.1:p.Pro257= | |
| NM_001003841.3:c.771C>T MANE Select | NP_001003841.1:p.Pro257= |