Linked Data
ClinVar Variation Id:
449341
dbSNP Id:
rs1440280370
gnomAD v2:
16-68771367-G-A
gnomAD v4:
16-68737464-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68737464G>A , CM000678.2:g.68737464G>A | GRCh38 |
| NC_000016.9:g.68771367G>A , CM000678.1:g.68771367G>A | GRCh37 |
| NC_000016.8:g.67328868G>A | NCBI36 |
| NG_008021.1:g.5173G>A , LRG_301:g.5173G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.48+1G>A MANE Select | ENSP00000261769.4:n.48+1G>A | |
| ENST00000261769.9:c.48+1G>A | ENSP00000261769.4:n.48+1G>A | |
| ENST00000422392.6:c.48+1G>A | ENSP00000414946.2:n.48+1G>A | |
| ENST00000566510.5:c.48+1G>A | ENSP00000458139.1:n.48+1G>A | |
| ENST00000566612.5:c.48+1G>A | ENSP00000454782.1:n.48+1G>A | |
| ENST00000611625.4:c.48+1G>A | ENSP00000481063.1:n.48+1G>A | |
| ENST00000612417.4:c.48+1G>A | ENSP00000478360.1:n.48+1G>A | |
| ENST00000621016.4:c.48+1G>A | ENSP00000480664.1:n.48+1G>A | |
| NM_004360.3:c.48+1G>A , LRG_301t1:c.48+1G>A | NP_004351.1:n.48+1G>A | |
| NM_001317184.1:c.48+1G>A | NP_001304113.1:n.48+1G>A | |
| NM_001317185.1:c.-1568+1G>A | NP_001304114.1:n.-1568+1G>A | |
| NM_001317186.1:c.-1772+1G>A | NP_001304115.1:n.-1772+1G>A | |
| NM_004360.4:c.48+1G>A | NP_004351.1:n.48+1G>A | |
| NM_004360.5:c.48+1G>A MANE Select | NP_004351.1:n.48+1G>A | |
| NM_001317184.2:c.48+1G>A | NP_001304113.1:n.48+1G>A | |
| NM_001317185.2:c.-1568+1G>A | NP_001304114.1:n.-1568+1G>A | |
| NM_001317186.2:c.-1772+1G>A | NP_001304115.1:n.-1772+1G>A |