Linked Data
dbSNP Id:
rs764813192
ExAC:
1:68895411 C / T
gnomAD v2:
1-68895411-C-T
gnomAD v4:
1-68429728-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429728C>T , CM000663.2:g.68429728C>T | GRCh38 |
| NC_000001.10:g.68895411C>T , CM000663.1:g.68895411C>T | GRCh37 |
| NC_000001.9:g.68667999C>T | NCBI36 |
| NG_008472.1:g.25232G>A | |
| NG_008472.2:g.25232G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.*48G>A MANE Select | ENSP00000262340.5:n.*48G>A | |
| ENST00000262340.5:c.*48G>A | ENSP00000262340.5:n.*48G>A | |
| NM_000329.2:c.*48G>A | NP_000320.1:n.*48G>A | |
| XM_017002027.1:c.*48G>A | XP_016857516.1:n.*48G>A | |
| NM_000329.3:c.*48G>A MANE Select | NP_000320.1:n.*48G>A |