Linked Data
ClinVar Variation Id:
43329
dbSNP Id:
rs397516330
gnomAD v2:
11-76924903-A-G
gnomAD v3:
11-77213858-A-G
gnomAD v4:
11-77213858-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77213858A>G , CM000673.2:g.77213858A>G | GRCh38 |
| NC_000011.9:g.76924903A>G , CM000673.1:g.76924903A>G | GRCh37 |
| NC_000011.8:g.76602551A>G | NCBI36 |
| NG_009086.1:g.90594A>G | |
| NG_009086.2:g.90613A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.6439-2A>G MANE Select | ENSP00000386331.3:n.6439-2A>G | |
| ENST00000670577.1:c.4240-2A>G | ||
| ENST00000409619.6:c.6292-2A>G | ENSP00000386635.2:n.6292-2A>G | |
| ENST00000409709.7:c.6439-2A>G | ENSP00000386331.3:n.6439-2A>G | |
| ENST00000458169.2:c.3865-2A>G | ENSP00000417017.2:n.3865-2A>G | |
| ENST00000458637.6:c.6319-2A>G | ENSP00000392185.2:n.6319-2A>G | |
| ENST00000481328.7:n.4989-2A>G | ||
| ENST00000481532.1:n.502-2A>G | ||
| ENST00000605744.1:n.1953-2A>G | ||
| NM_000260.3:c.6439-2A>G | NP_000251.3:n.6439-2A>G | |
| NM_001127180.1:c.6319-2A>G | NP_001120652.1:n.6319-2A>G | |
| XM_005274012.2:c.6322-2A>G | XP_005274069.1:n.6322-2A>G | |
| XM_006718561.2:c.6325-2A>G | XP_006718624.1:n.6325-2A>G | |
| XR_949941.1:n.6733-2A>G | ||
| XM_017017780.1:c.6529-2A>G | XP_016873269.1:n.6529-2A>G | |
| XM_017017784.1:c.6412-2A>G | XP_016873273.1:n.6412-2A>G | |
| XM_017017788.1:c.6415-2A>G | XP_016873277.1:n.6415-2A>G | |
| XR_001747885.1:n.6518-2A>G | ||
| XR_001747887.1:n.6504-2A>G | ||
| NM_000260.4:c.6439-2A>G MANE Select | NP_000251.3:n.6439-2A>G | |
| NM_001127180.2:c.6319-2A>G | NP_001120652.1:n.6319-2A>G | |
| NM_001369365.1:c.6292-2A>G | NP_001356294.1:n.6292-2A>G |