Linked Data
ClinVar Variation Id:
3111440
ClinVar RCV Id:
RCV004405820
dbSNP Id:
rs1382006121
gnomAD v2:
17-45360835-C-T
gnomAD v3:
17-47283469-C-T
gnomAD v4:
17-47283469-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283469C>T , CM000679.2:g.47283469C>T | GRCh38 |
| NC_000017.10:g.45360835C>T , CM000679.1:g.45360835C>T | GRCh37 |
| NC_000017.9:g.42715834C>T | NCBI36 |
| NG_008332.2:g.34628C>T , LRG_481:g.34628C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.281C>T | ENSP00000513002.1:p.Pro94Leu | |
| ENST00000559488.7:c.281C>T MANE Select | ENSP00000452786.2:p.Pro94Leu | |
| ENST00000559488.5:c.281C>T | ENSP00000452786.1:p.Pro94Leu | |
| ENST00000560629.1:c.246C>T | ||
| ENST00000571680.1:c.281C>T | ENSP00000461626.1:p.Pro94Leu | |
| NM_000212.2:c.281C>T , LRG_481t1:c.281C>T | NP_000203.2:p.Pro94Leu | |
| NM_000212.3:c.281C>T MANE Select | NP_000203.2:p.Pro94Leu |