Linked Data
dbSNP Id:
rs1307112386
gnomAD v2:
10-96053420-C-A
gnomAD v3:
10-94293663-C-A
gnomAD v4:
10-94293663-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94293663C>A , CM000672.2:g.94293663C>A | GRCh38 |
| NC_000010.10:g.96053420C>A , CM000672.1:g.96053420C>A | GRCh37 |
| NC_000010.9:g.96043410C>A | NCBI36 |
| NG_015799.1:g.304675C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371375.2:c.4243+24C>A | ENSP00000360426.1:n.4243+24C>A | |
| ENST00000685253.1:c.*1710+24C>A | ENSP00000509405.1:n.*1710+24C>A | |
| ENST00000685889.1:n.1902+24C>A | ||
| ENST00000686807.1:n.586+24C>A | ||
| ENST00000686954.1:c.*451+24C>A | ENSP00000508416.1:n.*451+24C>A | |
| ENST00000688810.1:c.4195+24C>A | ENSP00000509140.1:n.4195+24C>A | |
| ENST00000689233.1:n.9375+24C>A | ||
| ENST00000690340.1:n.2840+24C>A | ||
| ENST00000692286.1:c.5036-4716C>A | ENSP00000509490.1:n.5036-4716C>A | |
| ENST00000692396.1:c.5119+24C>A | ENSP00000508605.1:n.5119+24C>A | |
| ENST00000371380.8:c.5167+24C>A MANE Select | ENSP00000360431.2:n.5167+24C>A | |
| ENST00000371385.8:c.4141+24C>A | ENSP00000360438.4:n.4141+24C>A | |
| ENST00000674738.1:c.3722+24C>A | ||
| ENST00000674827.1:c.3283+24C>A | ENSP00000502523.1:n.3283+24C>A | |
| ENST00000675218.1:c.4243+24C>A | ENSP00000501910.1:n.4243+24C>A | |
| ENST00000675487.1:c.*1100+24C>A | ENSP00000502340.1:n.*1100+24C>A | |
| ENST00000675718.1:c.4436+24C>A | ||
| ENST00000676102.1:c.4012+24C>A | ENSP00000502811.1:n.4012+24C>A | |
| ENST00000260766.7:c.5167+24C>A | ENSP00000260766.3:n.5167+24C>A | |
| ENST00000371375.1:c.4243+24C>A | ENSP00000360426.1:n.4243+24C>A | |
| ENST00000371380.7:c.5167+24C>A | ENSP00000360431.2:n.5167+24C>A | |
| ENST00000371385.7:c.4243+24C>A | ENSP00000360438.3:n.4243+24C>A | |
| NM_001165979.2:c.4243+24C>A | NP_001159451.1:n.4243+24C>A | |
| NM_001288989.1:c.5119+24C>A | NP_001275918.1:n.5119+24C>A | |
| NM_016341.3:c.5167+24C>A | NP_057425.3:n.5167+24C>A | |
| XM_006717885.2:c.5209+24C>A | XP_006717948.1:n.5209+24C>A | |
| XM_006717886.2:c.5209+24C>A | XP_006717949.1:n.5209+24C>A | |
| XM_006717888.2:c.5206+24C>A | XP_006717951.1:n.5206+24C>A | |
| XM_006717889.2:c.5161+24C>A | XP_006717952.1:n.5161+24C>A | |
| XM_006717890.1:c.4285+24C>A | XP_006717953.1:n.4285+24C>A | |
| XM_011539849.1:c.5209+24C>A | XP_011538151.1:n.5209+24C>A | |
| XM_011539850.1:c.4054+24C>A | XP_011538152.1:n.4054+24C>A | |
| XM_006717885.4:c.5209+24C>A | XP_006717948.1:n.5209+24C>A | |
| XM_006717888.4:c.5206+24C>A | XP_006717951.1:n.5206+24C>A | |
| XM_006717889.4:c.5161+24C>A | XP_006717952.1:n.5161+24C>A | |
| XM_006717890.3:c.4285+24C>A | XP_006717953.1:n.4285+24C>A | |
| XM_011539849.3:c.5209+24C>A | XP_011538151.1:n.5209+24C>A | |
| XM_011539850.3:c.4054+24C>A | XP_011538152.1:n.4054+24C>A | |
| XM_017016310.2:c.5209+24C>A | XP_016871799.1:n.5209+24C>A | |
| XM_017016311.2:c.5209+24C>A | XP_016871800.1:n.5209+24C>A | |
| XM_017016312.2:c.4195+24C>A | XP_016871801.1:n.4195+24C>A | |
| NM_001288989.2:c.5119+24C>A | NP_001275918.1:n.5119+24C>A | |
| NM_016341.4:c.5167+24C>A MANE Select | NP_057425.3:n.5167+24C>A |