Linked Data
dbSNP Id:
rs768539259
ExAC:
19:38993395 G / A
gnomAD v2:
19-38993395-G-A
gnomAD v4:
19-38502755-G-A
MyVariant Identifiers:
chr19:g.38993395G>A (hg19)
chr19:g.38993395_38993397delinsACA (hg19)
chr19:g.38502755G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38502755G>A , CM000681.2:g.38502755G>A | GRCh38 |
| NC_000019.9:g.38993395G>A , CM000681.1:g.38993395G>A | GRCh37 |
| NC_000019.8:g.43685235G>A | NCBI36 |
| NG_008866.1:g.74056G>A , LRG_766:g.74056G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.7835+28G>A | ENSP00000471601.2:n.7835+28G>A | |
| ENST00000359596.8:c.7835+28G>A MANE Select | ENSP00000352608.2:n.7835+28G>A | |
| ENST00000355481.8:c.7835+28G>A | ENSP00000347667.3:n.7835+28G>A | |
| ENST00000359596.7:c.7835+28G>A | ENSP00000352608.2:n.7835+28G>A | |
| ENST00000360985.7:c.7832+28G>A | ENSP00000354254.4:n.7832+28G>A | |
| ENST00000594335.5:c.1287+28G>A | ||
| NM_000540.2:c.7835+28G>A , LRG_766t1:c.7835+28G>A | NP_000531.2:n.7835+28G>A | |
| NM_001042723.1:c.7835+28G>A | NP_001036188.1:n.7835+28G>A | |
| XM_006723317.1:c.7835+28G>A | XP_006723380.1:n.7835+28G>A | |
| XM_006723319.1:c.7835+28G>A | XP_006723382.1:n.7835+28G>A | |
| XM_011527204.1:c.7832+28G>A | XP_011525506.1:n.7832+28G>A | |
| XM_011527205.1:c.7835+28G>A | XP_011525507.1:n.7835+28G>A | |
| XM_006723317.2:c.7835+28G>A | XP_006723380.1:n.7835+28G>A | |
| XM_006723319.2:c.7835+28G>A | XP_006723382.1:n.7835+28G>A | |
| XM_011527205.2:c.7835+28G>A | XP_011525507.1:n.7835+28G>A | |
| XR_001753735.1:n.7918+28G>A | ||
| NM_000540.3:c.7835+28G>A MANE Select | NP_000531.2:n.7835+28G>A | |
| NM_001042723.2:c.7835+28G>A | NP_001036188.1:n.7835+28G>A |