Linked Data
ClinVar Variation Id:
402448
ClinVar RCV Id:
RCV001692098
dbSNP Id:
rs3813948
ExAC:
1:207269858 T / C
gnomAD v2:
1-207269858-T-C
gnomAD v3:
1-207096513-T-C
gnomAD v4:
1-207096513-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207096513T>C , CM000663.2:g.207096513T>C | GRCh38 |
| NC_000001.10:g.207269858T>C , CM000663.1:g.207269858T>C | GRCh37 |
| NC_000001.9:g.205336481T>C | NCBI36 |
| NG_029386.1:g.12647T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367078.8:c.410-9T>C MANE Select | ENSP00000356045.3:n.410-9T>C | |
| ENST00000243611.9:c.410-9T>C | ENSP00000243611.5:n.410-9T>C | |
| ENST00000367076.7:c.407-9T>C | ENSP00000356043.3:n.407-9T>C | |
| ENST00000367078.7:c.410-9T>C | ENSP00000356045.3:n.410-9T>C | |
| ENST00000391923.1:c.410-9T>C | ENSP00000375790.1:n.410-9T>C | |
| ENST00000452902.6:c.410-9T>C | ENSP00000392237.1:n.410-9T>C | |
| ENST00000469326.1:n.1580T>C | ||
| NM_000716.3:c.410-9T>C | NP_000707.1:n.410-9T>C | |
| NM_001017364.1:c.407-9T>C | NP_001017364.1:n.407-9T>C | |
| NM_001017365.1:c.410-9T>C | NP_001017365.1:n.410-9T>C | |
| NM_001017365.2:c.410-9T>C | NP_001017365.1:n.410-9T>C | |
| NM_001017366.1:c.407-9T>C | NP_001017366.1:n.407-9T>C | |
| NM_001017366.2:c.407-9T>C | NP_001017366.1:n.407-9T>C | |
| NM_001017367.1:c.410-9T>C | NP_001017367.1:n.410-9T>C | |
| XM_005273253.3:c.410-9T>C | XP_005273310.1:n.410-9T>C | |
| XM_005273254.3:c.410-9T>C | XP_005273311.1:n.410-9T>C | |
| XM_005273255.2:c.*945T>C | XP_005273312.1:n.*945T>C | |
| XM_005273254.5:c.410-9T>C | XP_005273311.1:n.410-9T>C | |
| XM_024449464.1:c.407-9T>C | XP_024305232.1:n.407-9T>C | |
| NM_001017365.3:c.410-9T>C MANE Select | NP_001017365.1:n.410-9T>C | |
| NM_001017366.3:c.407-9T>C | NP_001017366.1:n.407-9T>C |