Linked Data
ClinVar Variation Id:
1802895
ClinVar RCV Id:
RCV002466170
dbSNP Id:
rs371348676
ExAC:
16:68849383 G / A
gnomAD v2:
16-68849383-G-A
gnomAD v3:
16-68815480-G-A
gnomAD v4:
16-68815480-G-A
MyVariant Identifiers:
chr16:g.68849383G>A (hg19)
chr16:g.68849383_68849389delinsATTTTGT (hg19)
chr16:g.68815480G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68815480G>A , CM000678.2:g.68815480G>A | GRCh38 |
| NC_000016.9:g.68849383G>A , CM000678.1:g.68849383G>A | GRCh37 |
| NC_000016.8:g.67406884G>A | NCBI36 |
| NG_008021.1:g.83189G>A , LRG_301:g.83189G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1321-35G>A MANE Select | ENSP00000261769.4:n.1321-35G>A | |
| ENST00000261769.9:c.1321-35G>A | ENSP00000261769.4:n.1321-35G>A | |
| ENST00000422392.6:c.1138-35G>A | ENSP00000414946.2:n.1138-35G>A | |
| ENST00000562836.5:n.1392-35G>A | ||
| ENST00000566510.5:c.1232-35G>A | ENSP00000458139.1:n.1232-35G>A | |
| ENST00000566612.5:c.1321-35G>A | ENSP00000454782.1:n.1321-35G>A | |
| ENST00000611625.4:c.1384-35G>A | ENSP00000481063.1:n.1384-35G>A | |
| ENST00000612417.4:c.1321-35G>A | ENSP00000478360.1:n.1321-35G>A | |
| ENST00000621016.4:c.1321-35G>A | ENSP00000480664.1:n.1321-35G>A | |
| NM_004360.3:c.1321-35G>A , LRG_301t1:c.1321-35G>A | NP_004351.1:n.1321-35G>A | |
| XM_011523488.1:c.586-35G>A | XP_011521790.1:n.586-35G>A | |
| XM_011523489.1:c.586-35G>A | XP_011521791.1:n.586-35G>A | |
| NM_001317184.1:c.1138-35G>A | NP_001304113.1:n.1138-35G>A | |
| NM_001317185.1:c.-228-35G>A | NP_001304114.1:n.-228-35G>A | |
| NM_001317186.1:c.-499-35G>A | NP_001304115.1:n.-499-35G>A | |
| NM_004360.4:c.1321-35G>A | NP_004351.1:n.1321-35G>A | |
| NM_004360.5:c.1321-35G>A MANE Select | NP_004351.1:n.1321-35G>A | |
| NM_001317184.2:c.1138-35G>A | NP_001304113.1:n.1138-35G>A | |
| NM_001317185.2:c.-228-35G>A | NP_001304114.1:n.-228-35G>A | |
| NM_001317186.2:c.-499-35G>A | NP_001304115.1:n.-499-35G>A |