Linked Data
ClinVar Variation Id:
382909
dbSNP Id:
rs202012811
ExAC:
3:49142033 G / A
gnomAD v2:
3-49142033-G-A
gnomAD v3:
3-49104600-G-A
gnomAD v4:
3-49104600-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49104600G>A , CM000665.2:g.49104600G>A | GRCh38 |
| NC_000003.11:g.49142033G>A , CM000665.1:g.49142033G>A | GRCh37 |
| NC_000003.10:g.49117037G>A | NCBI36 |
| NG_042312.1:g.5530C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306125.12:c.117+17C>T MANE Select | ENSP00000307567.6:n.117+17C>T | |
| ENST00000306125.11:c.117+17C>T | ENSP00000307567.6:n.117+17C>T | |
| ENST00000414533.5:c.117+17C>T | ENSP00000390015.1:n.117+17C>T | |
| ENST00000417025.2:n.143+17C>T | ||
| ENST00000418549.3:c.117+17C>T | ENSP00000415247.1:n.117+17C>T | |
| ENST00000430182.5:c.117+17C>T | ENSP00000389823.1:n.117+17C>T | |
| ENST00000452739.5:c.117+17C>T | ENSP00000392850.2:n.117+17C>T | |
| ENST00000470619.6:n.136+17C>T | ||
| ENST00000479495.5:n.98-129C>T | ||
| ENST00000482261.7:n.193+17C>T | ||
| ENST00000482438.2:n.143+17C>T | ||
| ENST00000494767.2:c.117+17C>T | ENSP00000489170.1:n.117+17C>T | |
| ENST00000634359.1:n.198-129C>T | ||
| ENST00000634527.1:c.-318-129C>T | ENSP00000489039.1:n.-318-129C>T | |
| ENST00000634602.1:c.117+17C>T | ENSP00000489082.1:n.117+17C>T | |
| ENST00000634609.1:n.142+17C>T | ||
| ENST00000634724.1:n.141+17C>T | ||
| ENST00000634802.1:c.117+17C>T | ENSP00000488917.1:n.117+17C>T | |
| ENST00000634953.1:n.144+17C>T | ||
| ENST00000635052.1:c.117+17C>T | ENSP00000489409.1:n.117+17C>T | |
| ENST00000635194.1:c.117+17C>T | ENSP00000488960.1:n.117+17C>T | |
| ENST00000635231.1:c.81+53C>T | ENSP00000489550.1:n.81+53C>T | |
| ENST00000635278.1:n.141+17C>T | ||
| ENST00000635443.1:c.117+17C>T | ENSP00000489154.1:n.117+17C>T | |
| ENST00000635494.1:c.117+17C>T | ENSP00000489331.1:n.117+17C>T | |
| ENST00000635501.1:n.507+17C>T | ||
| ENST00000635622.1:c.-347+17C>T | ENSP00000489558.1:n.-347+17C>T | |
| NM_001272073.1:c.117+17C>T | NP_001259002.1:n.117+17C>T | |
| NM_005051.2:c.117+17C>T | NP_005042.1:n.117+17C>T | |
| NR_073590.1:n.513+17C>T | ||
| XM_011533973.1:c.171+17C>T | XP_011532275.1:n.171+17C>T | |
| XM_017006965.2:c.117+17C>T | XP_016862454.2:n.117+17C>T | |
| NM_005051.3:c.117+17C>T MANE Select | NP_005042.1:n.117+17C>T | |
| NM_001272073.2:c.117+17C>T | NP_001259002.1:n.117+17C>T | |
| NR_073590.2:n.141+17C>T |