Linked Data
ClinVar Variation Id:
1898831
ClinVar RCV Id:
RCV002570153
dbSNP Id:
rs759462870
ExAC:
2:170010962 A / G
gnomAD v2:
2-170010962-A-G
gnomAD v4:
2-169154452-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169154452A>G , CM000664.2:g.169154452A>G | GRCh38 |
| NC_000002.11:g.170010962A>G , CM000664.1:g.170010962A>G | GRCh37 |
| NC_000002.10:g.169719208A>G | NCBI36 |
| NG_012634.1:g.213161T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649046.1:c.12295+8T>C MANE Select | ENSP00000496870.1:n.12295+8T>C | |
| ENST00000649153.1:c.3195+8T>C | ||
| ENST00000650252.1:c.1323+8T>C | ENSP00000496887.1:n.1323+8T>C | |
| ENST00000263816.7:c.12295+8T>C | ENSP00000263816.3:n.12295+8T>C | |
| NM_004525.2:c.12295+8T>C | NP_004516.2:n.12295+8T>C | |
| XM_011511183.1:c.12166+8T>C | XP_011509485.1:n.12166+8T>C | |
| XM_011511184.1:c.10006+8T>C | XP_011509486.1:n.10006+8T>C | |
| NM_004525.3:c.12295+8T>C MANE Select | NP_004516.2:n.12295+8T>C | |
| XM_011511183.3:c.12166+8T>C | XP_011509485.1:n.12166+8T>C | |
| XM_011511184.2:c.10006+8T>C | XP_011509486.1:n.10006+8T>C |