Linked Data
ClinVar Variation Id:
3073820
ClinVar RCV Id:
RCV004016826
dbSNP Id:
rs730880960
gnomAD v2:
3-46902280-G-T
gnomAD v4:
3-46860790-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46860790G>T , CM000665.2:g.46860790G>T | GRCh38 |
| NC_000003.11:g.46902280G>T , CM000665.1:g.46902280G>T | GRCh37 |
| NC_000003.10:g.46877284G>T | NCBI36 |
| NG_007555.2:g.26380C>A , LRG_395:g.26380C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431168.2:c.193C>A | ENSP00000393455.2:p.Pro65Thr | |
| ENST00000292327.6:c.193C>A MANE Select | ENSP00000292327.4:p.Pro65Thr | |
| ENST00000653454.1:c.193C>A | ENSP00000499624.1:p.Pro65Thr | |
| ENST00000654597.1:c.193C>A | ENSP00000499406.1:p.Pro65Thr | |
| ENST00000655244.1:n.415C>A | ||
| ENST00000662933.1:c.193C>A | ENSP00000499577.1:p.Pro65Thr | |
| ENST00000664891.1:n.151C>A | ||
| ENST00000292327.4:c.193C>A | ENSP00000292327.4:p.Pro65Thr | |
| ENST00000395869.5:c.193C>A | ENSP00000379210.1:p.Pro65Thr | |
| NM_000258.2:c.193C>A , LRG_395t1:c.193C>A | NP_000249.1:p.Pro65Thr | |
| NM_000258.3:c.193C>A MANE Select | NP_000249.1:p.Pro65Thr |