Linked Data
ClinVar Variation Id:
187174
dbSNP Id:
rs745677716
ExAC:
11:94178974 A / G
gnomAD v3:
11-94445808-A-G
gnomAD v4:
11-94445808-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94445808A>G , CM000673.2:g.94445808A>G | GRCh38 |
| NC_000011.9:g.94178974A>G , CM000673.1:g.94178974A>G | GRCh37 |
| NC_000011.8:g.93818622A>G | NCBI36 |
| NG_007261.1:g.53067T>C , LRG_85:g.53067T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323929.8:c.1867+2T>C MANE Select | ENSP00000325863.4:n.1867+2T>C | |
| ENST00000323929.7:c.1867+2T>C | ENSP00000325863.3:n.1867+2T>C | |
| ENST00000323977.7:c.1783+1411T>C | ENSP00000326094.3:n.1783+1411T>C | |
| ENST00000393241.8:c.1864+2T>C | ENSP00000376933.4:n.1864+2T>C | |
| ENST00000407439.7:c.1876+2T>C | ENSP00000385614.3:n.1876+2T>C | |
| ENST00000535120.1:n.165T>C | ||
| NM_005590.3:c.1783+1411T>C | NP_005581.2:n.1783+1411T>C | |
| NM_005591.3:c.1867+2T>C , LRG_85t1:c.1867+2T>C | NP_005582.1:n.1867+2T>C | |
| XM_005274008.2:c.1399+2T>C | XP_005274065.1:n.1399+2T>C | |
| XM_006718842.2:c.1864+2T>C | XP_006718905.1:n.1864+2T>C | |
| XM_011542837.1:c.1867+2T>C | XP_011541139.1:n.1867+2T>C | |
| XR_947828.1:n.2163+2T>C | ||
| NM_001330347.1:c.1864+2T>C | NP_001317276.1:n.1864+2T>C | |
| XM_005274008.3:c.1399+2T>C | XP_005274065.1:n.1399+2T>C | |
| XM_006718842.3:c.1864+2T>C | XP_006718905.1:n.1864+2T>C | |
| XM_011542837.2:c.1867+2T>C | XP_011541139.1:n.1867+2T>C | |
| XM_017017772.1:c.1867+2T>C | XP_016873261.1:n.1867+2T>C | |
| XR_947828.2:n.2163+2T>C | ||
| NM_001330347.2:c.1864+2T>C | NP_001317276.1:n.1864+2T>C | |
| NM_005590.4:c.1783+1411T>C | NP_005581.2:n.1783+1411T>C | |
| NM_005591.4:c.1867+2T>C MANE Select | NP_005582.1:n.1867+2T>C |