Linked Data
dbSNP Id:
rs768720228
ExAC:
X:68049613 C / T
gnomAD v2:
X-68049613-C-T
gnomAD v4:
X-68829770-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68829770C>T , CM000685.2:g.68829770C>T | GRCh38 |
| NC_000023.10:g.68049613C>T , CM000685.1:g.68049613C>T | GRCh37 |
| NC_000023.9:g.67966338C>T | NCBI36 |
| NG_008887.1:g.5774C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.-7C>T MANE Select | ENSP00000204961.4:n.-7C>T | |
| ENST00000204961.4:c.-7C>T | ENSP00000204961.4:n.-7C>T | |
| NM_004429.4:c.-7C>T | NP_004420.1:n.-7C>T | |
| NM_004429.5:c.-7C>T MANE Select | NP_004420.1:n.-7C>T |