Linked Data
ClinVar Variation Id:
2901609
ClinVar RCV Id:
RCV003615292
dbSNP Id:
rs747081621
ExAC:
19:7593970 G / A
gnomAD v2:
19-7593970-G-A
gnomAD v4:
19-7529084-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529084G>A , CM000681.2:g.7529084G>A | GRCh38 |
| NC_000019.9:g.7593970G>A , CM000681.1:g.7593970G>A | GRCh37 |
| NC_000019.8:g.7499970G>A | NCBI36 |
| NG_015806.1:g.11475G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.1135-17G>A MANE Select | ENSP00000264079.5:n.1135-17G>A | |
| ENST00000264079.10:c.1135-17G>A | ENSP00000264079.5:n.1135-17G>A | |
| ENST00000394321.9:n.1450-17G>A | ||
| ENST00000594692.1:n.114G>A | ||
| ENST00000595860.5:n.318-17G>A | ||
| ENST00000599334.1:c.12-17G>A | ||
| NM_020533.2:c.1135-17G>A | NP_065394.1:n.1135-17G>A | |
| NM_020533.3:c.1135-17G>A MANE Select | NP_065394.1:n.1135-17G>A |