Linked Data
ClinVar Variation Id:
463676
ClinVar RCV Id:
RCV002526108
dbSNP Id:
rs758127975
ExAC:
6:123542630 A / G
gnomAD v2:
6-123542630-A-G
gnomAD v4:
6-123221485-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123221485A>G , CM000668.2:g.123221485A>G | GRCh38 |
| NC_000006.11:g.123542630A>G , CM000668.1:g.123542630A>G | GRCh37 |
| NC_000006.10:g.123584329A>G | NCBI36 |
| NG_030438.1:g.420609T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334268.9:c.2050+2T>C MANE Select | ENSP00000333984.5:n.2050+2T>C | |
| ENST00000334268.8:c.2050+2T>C | ENSP00000333984.5:n.2050+2T>C | |
| NM_006073.3:c.2050+2T>C | NP_006064.2:n.2050+2T>C | |
| XM_011535382.1:c.1969+2T>C | XP_011533684.1:n.1969+2T>C | |
| NM_006073.4:c.2050+2T>C MANE Select | NP_006064.2:n.2050+2T>C |