Linked Data
dbSNP Id:
rs1358756587
gnomAD v2:
3-147131265-C-T
gnomAD v3:
3-147413478-C-T
gnomAD v4:
3-147413478-C-T
COSMIC:
COSM1270932
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413478C>T , CM000665.2:g.147413478C>T | GRCh38 |
| NC_000003.11:g.147131265C>T , CM000665.1:g.147131265C>T | GRCh37 |
| NC_000003.10:g.148613955C>T | NCBI36 |
| NG_015886.1:g.9085C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.1271C>T MANE Select | ENSP00000282928.4:p.Pro424Leu | |
| ENST00000282928.4:c.1271C>T | ENSP00000282928.4:p.Pro424Leu | |
| ENST00000472523.1:n.521+19536C>T | ||
| ENST00000488404.5:c.337C>T | ||
| NM_003412.3:c.1271C>T | NP_003403.2:p.Pro424Leu | |
| NM_003412.4:c.1271C>T MANE Select | NP_003403.2:p.Pro424Leu |