Linked Data
ClinVar Variation Id:
2988118
ClinVar RCV Id:
RCV003844301
dbSNP Id:
rs1380504097
gnomAD v2:
15-80445411-G-A
gnomAD v4:
15-80153069-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80153069G>A , CM000677.2:g.80153069G>A | GRCh38 |
| NC_000015.9:g.80445411G>A , CM000677.1:g.80445411G>A | GRCh37 |
| NC_000015.8:g.78232466G>A | NCBI36 |
| NG_012833.1:g.5071G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000558767.6:c.15G>A | ENSP00000507680.1:p.Pro5= | |
| ENST00000682012.1:n.90G>A | ||
| ENST00000684363.1:c.15G>A | ENSP00000507314.1:p.Pro5= | |
| ENST00000684569.1:n.60G>A | ||
| ENST00000561421.6:c.15G>A MANE Select | ENSP00000453347.2:p.Pro5= | |
| ENST00000261755.9:c.15G>A | ENSP00000261755.5:p.Pro5= | |
| ENST00000407106.5:c.15G>A | ENSP00000385080.1:p.Pro5= | |
| ENST00000537726.5:n.97G>A | ||
| ENST00000558022.5:c.15G>A | ENSP00000453152.1:p.Pro5= | |
| ENST00000558767.5:n.276G>A | ||
| ENST00000561369.1:n.95G>A | ||
| ENST00000561421.5:c.15G>A | ENSP00000453347.1:p.Pro5= | |
| NM_000137.2:c.15G>A | NP_000128.1:p.Pro5= | |
| XM_024449872.1:c.15G>A | XP_024305640.1:p.Pro5= | |
| NM_000137.4:c.15G>A MANE Select | NP_000128.1:p.Pro5= | |
| NM_001374377.1:c.15G>A | NP_001361306.1:p.Pro5= | |
| NM_001374380.1:c.15G>A | NP_001361309.1:p.Pro5= |