Linked Data
ClinVar Variation Id:
1237727
ClinVar RCV Id:
RCV001637275
dbSNP Id:
rs1805377
ExAC:
5:82648943 G / A
gnomAD v2:
5-82648943-G-A
gnomAD v3:
5-83353124-G-A
gnomAD v4:
5-83353124-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.83353124G>A , CM000667.2:g.83353124G>A | GRCh38 |
| NC_000005.9:g.82648943G>A , CM000667.1:g.82648943G>A | GRCh37 |
| NC_000005.8:g.82684699G>A | NCBI36 |
| NG_047086.1:g.280716G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396027.9:c.894-7G>A MANE Select | ENSP00000379344.4:n.894-7G>A | |
| ENST00000282268.7:c.894-7G>A | ENSP00000282268.3:n.894-7G>A | |
| ENST00000338635.10:c.894-1G>A | ENSP00000342011.6:n.894-1G>A | |
| ENST00000396027.8:c.894-7G>A | ENSP00000379344.4:n.894-7G>A | |
| ENST00000511817.1:c.894-1G>A | ENSP00000421491.1:n.894-1G>A | |
| NM_003401.3:c.894-7G>A | NP_003392.1:n.894-7G>A | |
| NM_022406.2:c.894-1G>A | NP_071801.1:n.894-1G>A | |
| NM_022550.2:c.894-7G>A | NP_072044.1:n.894-7G>A | |
| XM_005248595.1:c.894-1G>A | XP_005248652.1:n.894-1G>A | |
| XM_011543626.1:c.894-1G>A | XP_011541928.1:n.894-1G>A | |
| XM_011543629.1:c.234-1G>A | XP_011541931.1:n.234-1G>A | |
| NM_001318012.1:c.894-1G>A | NP_001304941.1:n.894-1G>A | |
| NM_003401.4:c.894-7G>A | NP_003392.1:n.894-7G>A | |
| NM_022406.3:c.894-1G>A | NP_071801.1:n.894-1G>A | |
| NM_022550.3:c.894-7G>A | NP_072044.1:n.894-7G>A | |
| XM_017009827.2:c.894-17143G>A | XP_016865316.1:n.894-17143G>A | |
| NM_001318012.2:c.894-1G>A | NP_001304941.1:n.894-1G>A | |
| NM_003401.5:c.894-7G>A MANE Select | NP_003392.1:n.894-7G>A | |
| NM_022406.4:c.894-1G>A | NP_071801.1:n.894-1G>A | |
| NM_001318012.3:c.894-1G>A | NP_001304941.1:n.894-1G>A | |
| NM_022406.5:c.894-1G>A | NP_071801.1:n.894-1G>A | |
| NM_022550.4:c.894-7G>A | NP_072044.1:n.894-7G>A |