Linked Data
ClinVar Variation Id:
1776149
ClinVar RCV Id:
RCV002398666
dbSNP Id:
rs772663614
gnomAD v3:
18-31498266-G-A
gnomAD v4:
18-31498266-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31498266G>A , CM000680.2:g.31498266G>A | GRCh38 |
| NC_000018.9:g.29078229G>A , CM000680.1:g.29078229G>A | GRCh37 |
| NC_000018.8:g.27332227G>A | NCBI36 |
| NG_007072.3:g.5025G>A , LRG_397:g.5025G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682241.2:c.15G>A | ENSP00000507600.2:p.Pro5= | |
| ENST00000683654.1:c.15G>A | ENSP00000506971.1:p.Pro5= | |
| ENST00000261590.13:c.15G>A MANE Select | ENSP00000261590.8:p.Pro5= | |
| ENST00000261590.12:c.15G>A | ENSP00000261590.8:p.Pro5= | |
| ENST00000585206.1:c.15G>A | ENSP00000462503.1:p.Pro5= | |
| NM_001943.3:c.15G>A , LRG_397t1:c.15G>A | NP_001934.2:p.Pro5= | |
| NM_001943.4:c.15G>A | NP_001934.2:p.Pro5= | |
| NM_001943.5:c.15G>A MANE Select | NP_001934.2:p.Pro5= |