Linked Data
ClinVar Variation Id:
1334468
ClinVar RCV Id:
RCV001814651
dbSNP Id:
rs1485723437
MutSpliceDB:
CA352515764
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47113875C>T , CM000665.2:g.47113875C>T | GRCh38 |
| NC_000003.11:g.47155365C>T , CM000665.1:g.47155365C>T | GRCh37 |
| NC_000003.10:g.47130369C>T | NCBI36 |
| NG_032091.1:g.55103G>A , LRG_775:g.55103G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638947.2:c.4583+1G>A | ENSP00000491413.2:n.4583+1G>A | |
| ENST00000685005.1:c.4616+1G>A | ENSP00000509568.1:n.4616+1G>A | |
| ENST00000685399.1:c.2595+1G>A | ||
| ENST00000685505.1:c.2656+1G>A | ||
| ENST00000686773.1:c.2595+1G>A | ||
| ENST00000686876.1:c.1731+1G>A | ||
| ENST00000688290.1:c.2595+1G>A | ||
| ENST00000690157.1:c.1731+1G>A | ||
| ENST00000690461.1:c.2879+1G>A | ENSP00000509352.1:n.2879+1G>A | |
| ENST00000691544.1:c.72-15794G>A | ENSP00000510710.1:n.72-15794G>A | |
| ENST00000691902.1:c.1731+1G>A | ||
| ENST00000692362.1:n.520+1G>A | ||
| ENST00000692883.1:c.2656+1G>A | ||
| ENST00000693321.1:c.2595+1G>A | ||
| ENST00000409792.4:c.4715+1G>A MANE Select | ENSP00000386759.3:n.4715+1G>A | |
| ENST00000638947.1:c.365+1G>A | ENSP00000491413.1:n.365+1G>A | |
| ENST00000330022.11:c.4659+1G>A | ||
| ENST00000409792.3:c.4715+1G>A | ENSP00000386759.3:n.4715+1G>A | |
| ENST00000431180.5:c.3867+1G>A | ||
| ENST00000445387.5:c.3615+1G>A | ||
| NM_014159.6:c.4715+1G>A , LRG_775t1:c.4715+1G>A | NP_054878.5:n.4715+1G>A | |
| XM_011533631.1:c.4793+1G>A | XP_011531933.1:n.4793+1G>A | |
| XM_011533632.1:c.4739+1G>A | XP_011531934.1:n.4739+1G>A | |
| XM_011533633.1:c.4793+1G>A | XP_011531935.1:n.4793+1G>A | |
| XM_011533634.1:c.4583+1G>A | XP_011531936.1:n.4583+1G>A | |
| XR_940418.1:n.4808+1G>A | ||
| XR_940419.1:n.4896+1G>A | ||
| XR_940420.1:n.4896+1G>A | ||
| NM_001349370.1:c.4583+1G>A | NP_001336299.1:n.4583+1G>A | |
| NR_146158.1:n.4768+1G>A | ||
| XM_011533632.3:c.4739+1G>A | XP_011531934.1:n.4739+1G>A | |
| XM_024453487.1:c.4583+1G>A | XP_024309255.1:n.4583+1G>A | |
| XM_024453488.1:c.4583+1G>A | XP_024309256.1:n.4583+1G>A | |
| XM_024453489.1:c.4583+1G>A | XP_024309257.1:n.4583+1G>A | |
| XR_001740131.2:n.4768+1G>A | ||
| XR_002959510.1:n.4644+1G>A | ||
| XR_002959511.1:n.4644+1G>A | ||
| XR_002959512.1:n.4644+1G>A | ||
| XR_002959513.1:n.4644+1G>A | ||
| XR_002959514.1:n.4644+1G>A | ||
| XR_002959515.1:n.4644+1G>A | ||
| XR_002959516.1:n.4644+1G>A | ||
| XR_002959517.1:n.4644+1G>A | ||
| NM_001349370.2:c.4583+1G>A | NP_001336299.1:n.4583+1G>A | |
| NR_146158.2:n.4904+1G>A | ||
| NM_001349370.3:c.4583+1G>A | NP_001336299.1:n.4583+1G>A | |
| NM_014159.7:c.4715+1G>A MANE Select | NP_054878.5:n.4715+1G>A | |
| NR_146158.3:n.4904+1G>A |