Linked Data
ClinVar Variation Id:
748760
ClinVar RCV Id:
RCV000925579
dbSNP Id:
rs376141228
ExAC:
17:1640652 G / A
gnomAD v2:
17-1640652-G-A
gnomAD v3:
17-1737358-G-A
gnomAD v4:
17-1737358-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1737358G>A , CM000679.2:g.1737358G>A | GRCh38 |
| NC_000017.10:g.1640652G>A , CM000679.1:g.1640652G>A | GRCh37 |
| NC_000017.9:g.1587402G>A | NCBI36 |
| NG_032811.1:g.25836G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409644.6:c.5506-7G>A MANE Select | ENSP00000386609.1:n.5506-7G>A | |
| ENST00000309182.9:c.2353-7G>A | ENSP00000312074.5:n.2353-7G>A | |
| ENST00000409644.5:c.5506-7G>A | ENSP00000386609.1:n.5506-7G>A | |
| ENST00000419248.5:c.1825-7G>A | ENSP00000407845.1:n.1825-7G>A | |
| ENST00000437219.6:c.1897-7G>A | ENSP00000391074.2:n.1897-7G>A | |
| ENST00000446363.5:c.1423-7G>A | ENSP00000401560.1:n.1423-7G>A | |
| ENST00000464528.5:n.3213-7G>A | ||
| NM_001163673.1:c.1897-7G>A | NP_001157145.1:n.1897-7G>A | |
| NM_001163809.1:c.5506-7G>A | NP_001157281.1:n.5506-7G>A | |
| NM_001163811.1:c.1825-7G>A | NP_001157283.1:n.1825-7G>A | |
| NM_152348.3:c.2353-7G>A | NP_689561.2:n.2353-7G>A | |
| XM_011523651.1:c.2353-7G>A | XP_011521953.1:n.2353-7G>A | |
| XM_011523651.2:c.2353-7G>A | XP_011521953.1:n.2353-7G>A | |
| XM_017024184.1:c.5409-7G>A | XP_016879673.1:n.5409-7G>A | |
| XR_001752427.1:n.5672-7G>A | ||
| XR_933973.2:n.5603-7G>A | ||
| NM_001163809.2:c.5506-7G>A MANE Select | NP_001157281.1:n.5506-7G>A | |
| NM_001163811.2:c.1825-7G>A | NP_001157283.1:n.1825-7G>A | |
| NM_152348.4:c.2353-7G>A | NP_689561.2:n.2353-7G>A | |
| NM_001163673.2:c.1897-7G>A | NP_001157145.1:n.1897-7G>A |