Linked Data
ClinVar Variation Id:
160314
dbSNP Id:
rs6790979
ExAC:
3:55513331 T / C
gnomAD v2:
3-55513331-T-C
gnomAD v3:
3-55479303-T-C
gnomAD v4:
3-55479303-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.55479303T>C , CM000665.2:g.55479303T>C | GRCh38 |
| NC_000003.11:g.55513331T>C , CM000665.1:g.55513331T>C | GRCh37 |
| NC_000003.10:g.55488371T>C | NCBI36 |
| NG_031992.1:g.13340A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264634.9:c.391+11A>G MANE Select | ENSP00000264634.4:n.391+11A>G | |
| ENST00000264634.8:c.391+11A>G | ENSP00000264634.4:n.391+11A>G | |
| ENST00000474267.5:c.391+11A>G | ENSP00000417310.1:n.391+11A>G | |
| ENST00000482079.1:c.346+11A>G | ENSP00000418184.1:n.346+11A>G | |
| ENST00000497027.5:c.346+11A>G | ENSP00000420104.1:n.346+11A>G | |
| ENST00000497817.1:n.398A>G | ||
| ENST00000614415.1:c.177+225A>G | ENSP00000478784.1:n.177+225A>G | |
| NM_001256105.1:c.346+11A>G | NP_001243034.1:n.346+11A>G | |
| NM_003392.4:c.391+11A>G | NP_003383.2:n.391+11A>G | |
| XM_006713324.1:c.346+11A>G | XP_006713387.1:n.346+11A>G | |
| XM_011534081.1:c.346+11A>G | XP_011532383.1:n.346+11A>G | |
| XM_011534082.1:c.346+11A>G | XP_011532384.1:n.346+11A>G | |
| XM_011534083.1:c.346+11A>G | XP_011532385.1:n.346+11A>G | |
| XM_011534084.1:c.346+11A>G | XP_011532386.1:n.346+11A>G | |
| XM_011534085.1:c.346+11A>G | XP_011532387.1:n.346+11A>G | |
| XM_011534086.1:c.346+11A>G | XP_011532388.1:n.346+11A>G | |
| XM_011534087.1:c.346+11A>G | XP_011532389.1:n.346+11A>G | |
| XM_011534088.1:c.346+11A>G | XP_011532390.1:n.346+11A>G | |
| XM_011534089.1:c.346+11A>G | XP_011532391.1:n.346+11A>G | |
| XM_011534085.2:c.346+11A>G | XP_011532387.1:n.346+11A>G | |
| XM_011534086.2:c.346+11A>G | XP_011532388.1:n.346+11A>G | |
| XM_011534087.2:c.346+11A>G | XP_011532389.1:n.346+11A>G | |
| XM_011534088.2:c.346+11A>G | XP_011532390.1:n.346+11A>G | |
| XM_017007127.1:c.433+11A>G | XP_016862616.1:n.433+11A>G | |
| XM_017007128.1:c.346+11A>G | XP_016862617.1:n.346+11A>G | |
| NM_001377271.1:c.346+11A>G | NP_001364200.1:n.346+11A>G | |
| NM_001377272.1:c.346+11A>G | NP_001364201.1:n.346+11A>G | |
| NM_003392.5:c.346+11A>G | NP_003383.3:n.346+11A>G | |
| NM_003392.7:c.391+11A>G MANE Select | NP_003383.4:n.391+11A>G |