Linked Data
dbSNP Id:
rs375399090
ExAC:
1:68895658 A / G
gnomAD v2:
1-68895658-A-G
gnomAD v4:
1-68429975-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429975A>G , CM000663.2:g.68429975A>G | GRCh38 |
| NC_000001.10:g.68895658A>G , CM000663.1:g.68895658A>G | GRCh37 |
| NC_000001.9:g.68668246A>G | NCBI36 |
| NG_008472.1:g.24985T>C | |
| NG_008472.2:g.24985T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1451-48T>C MANE Select | ENSP00000262340.5:n.1451-48T>C | |
| ENST00000262340.5:c.1451-48T>C | ENSP00000262340.5:n.1451-48T>C | |
| NM_000329.2:c.1451-48T>C | NP_000320.1:n.1451-48T>C | |
| XM_017002027.1:c.1175-48T>C | XP_016857516.1:n.1175-48T>C | |
| NM_000329.3:c.1451-48T>C MANE Select | NP_000320.1:n.1451-48T>C |