Linked Data
dbSNP Id:
rs781601310
ExAC:
5:140710714 C / T
gnomAD v2:
5-140710714-C-T
gnomAD v3:
5-141331147-C-T
gnomAD v4:
5-141331147-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141331147C>T , CM000667.2:g.141331147C>T | GRCh38 |
| NC_000005.9:g.140710714C>T , CM000667.1:g.140710714C>T | GRCh37 |
| NC_000005.8:g.140690898C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517417.3:c.463C>T MANE Select | ENSP00000431083.1:p.Pro155Ser | |
| ENST00000378105.4:c.463C>T | ENSP00000367345.3:p.Pro155Ser | |
| ENST00000517417.2:c.463C>T | ENSP00000431083.1:p.Pro155Ser | |
| NM_018912.2:c.463C>T | NP_061735.1:p.Pro155Ser | |
| NM_031993.1:c.463C>T | NP_114382.1:p.Pro155Ser | |
| NM_018912.3:c.463C>T MANE Select | NP_061735.1:p.Pro155Ser | |
| NM_031993.2:c.463C>T | NP_114382.1:p.Pro155Ser |