Linked Data
ClinVar Variation Id:
818164
dbSNP Id:
rs759078908
ExAC:
6:137193396 A / G
gnomAD v2:
6-137193396-A-G
gnomAD v3:
6-136872258-A-G
gnomAD v4:
6-136872258-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136872258A>G , CM000668.2:g.136872258A>G | GRCh38 |
| NC_000006.11:g.137193396A>G , CM000668.1:g.137193396A>G | GRCh37 |
| NC_000006.10:g.137235089A>G | NCBI36 |
| NG_008462.1:g.54679A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.803+5A>G MANE Select | ENSP00000315680.3:n.803+5A>G | |
| ENST00000541292.6:c.*68+5A>G | ENSP00000441004.1:n.*68+5A>G | |
| ENST00000678002.1:c.491+5A>G | ||
| ENST00000678557.1:c.689+5A>G | ENSP00000502962.1:n.689+5A>G | |
| ENST00000678593.1:c.813A>G | ENSP00000503841.1:n.813A>G | |
| ENST00000679286.1:c.683+5A>G | ENSP00000503168.1:n.683+5A>G | |
| ENST00000318471.4:c.803+5A>G | ENSP00000315680.3:n.803+5A>G | |
| NM_000288.3:c.803+5A>G | NP_000279.1:n.803+5A>G | |
| XM_005267019.3:c.689+5A>G | XP_005267076.1:n.689+5A>G | |
| XM_006715502.1:c.509+5A>G | XP_006715565.1:n.509+5A>G | |
| XM_011535900.1:c.527-25884A>G | XP_011534202.1:n.527-25884A>G | |
| XM_005267019.4:c.689+5A>G | XP_005267076.1:n.689+5A>G | |
| XM_006715502.2:c.509+5A>G | XP_006715565.1:n.509+5A>G | |
| XM_017010934.2:c.527-25884A>G | XP_016866423.1:n.527-25884A>G | |
| NM_000288.4:c.803+5A>G MANE Select | NP_000279.1:n.803+5A>G |