Linked Data
ClinVar Variation Id:
1181541
ClinVar RCV Id:
RCV001538950
dbSNP Id:
rs115889132
gnomAD v2:
18-43666899-T-C
gnomAD v3:
18-46086933-T-C
gnomAD v4:
18-46086933-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46086933T>C , CM000680.2:g.46086933T>C | GRCh38 |
| NC_000018.9:g.43666899T>C , CM000680.1:g.43666899T>C | GRCh37 |
| NC_000018.8:g.41920897T>C | NCBI36 |
| NG_041769.1:g.22301A>G | |
| NG_041769.2:g.27301A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398752.11:c.1176+75A>G MANE Select | ENSP00000381736.5:n.1176+75A>G | |
| ENST00000282050.6:c.1176+75A>G | ENSP00000282050.2:n.1176+75A>G | |
| ENST00000398752.10:c.1176+75A>G | ENSP00000381736.5:n.1176+75A>G | |
| ENST00000586523.1:n.1764A>G | ||
| ENST00000586592.5:c.*1239+75A>G | ENSP00000466275.3:n.*1239+75A>G | |
| ENST00000590156.5:c.*1072+75A>G | ENSP00000466309.1:n.*1072+75A>G | |
| ENST00000590665.5:c.1110+75A>G | ENSP00000467037.1:n.1110+75A>G | |
| ENST00000592364.5:c.*49+75A>G | ENSP00000468618.1:n.*49+75A>G | |
| ENST00000593152.6:c.1026+75A>G | ENSP00000465477.2:n.1026+75A>G | |
| NM_001001935.2:c.1026+75A>G | NP_001001935.1:n.1026+75A>G | |
| NM_001001937.1:c.1176+75A>G | NP_001001937.1:n.1176+75A>G | |
| NM_001257334.1:c.1110+75A>G | NP_001244263.1:n.1110+75A>G | |
| NM_001257335.1:c.1026+75A>G | NP_001244264.1:n.1026+75A>G | |
| NM_004046.5:c.1176+75A>G | NP_004037.1:n.1176+75A>G | |
| XM_011526018.1:c.1026+75A>G | XP_011524320.1:n.1026+75A>G | |
| XM_017025789.1:c.1176+75A>G | XP_016881278.1:n.1176+75A>G | |
| NM_004046.6:c.1176+75A>G MANE Select | NP_004037.1:n.1176+75A>G | |
| NM_001001935.3:c.1026+75A>G | NP_001001935.1:n.1026+75A>G | |
| NM_001257334.2:c.1110+75A>G | NP_001244263.1:n.1110+75A>G | |
| NM_001001937.2:c.1176+75A>G | NP_001001937.1:n.1176+75A>G | |
| NM_001257335.2:c.1026+75A>G | NP_001244264.1:n.1026+75A>G |