Linked Data
dbSNP Id:
rs756701183
gnomAD v4:
1-68429884-C-T
MyVariant Identifiers:
chr1:g.68895567C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429884C>T , CM000663.2:g.68429884C>T | GRCh38 |
| NC_000001.10:g.68895567C>T , CM000663.1:g.68895567C>T | GRCh37 |
| NC_000001.9:g.68668155C>T | NCBI36 |
| NG_008472.1:g.25076G>A | |
| NG_008472.2:g.25076G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1494G>A MANE Select | ENSP00000262340.5:p.Lys498= | |
| ENST00000262340.5:c.1494G>A | ENSP00000262340.5:p.Lys498= | |
| NM_000329.2:c.1494G>A | NP_000320.1:p.Lys498= | |
| XM_017002027.1:c.1218G>A | XP_016857516.1:p.Lys406= | |
| NM_000329.3:c.1494G>A MANE Select | NP_000320.1:p.Lys498= |