Linked Data
dbSNP Id:
rs2472647
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141331138G>C , CM000667.2:g.141331138G>C | GRCh38 |
| NC_000005.9:g.140710705G>C , CM000667.1:g.140710705G>C | GRCh37 |
| NC_000005.8:g.140690889G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000517417.3:c.454G>C MANE Select | ENSP00000431083.1:p.Val152Leu | |
| ENST00000378105.4:c.454G>C | ENSP00000367345.3:p.Val152Leu | |
| ENST00000517417.2:c.454G>C | ENSP00000431083.1:p.Val152Leu | |
| NM_018912.2:c.454G>C | NP_061735.1:p.Val152Leu | |
| NM_031993.1:c.454G>C | NP_114382.1:p.Val152Leu | |
| NM_018912.3:c.454G>C MANE Select | NP_061735.1:p.Val152Leu | |
| NM_031993.2:c.454G>C | NP_114382.1:p.Val152Leu |