Linked Data
dbSNP Id:
rs193136442
gnomAD v2:
X-54521459-C-A
gnomAD v3:
X-54495026-C-A
gnomAD v4:
X-54495026-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54495026C>A , CM000685.2:g.54495026C>A | GRCh38 |
| NC_000023.10:g.54521459C>A , CM000685.1:g.54521459C>A | GRCh37 |
| NC_000023.9:g.54538184C>A | NCBI36 |
| NG_008054.1:g.6141G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.307+100G>T MANE Select | ENSP00000364277.3:n.307+100G>T | |
| ENST00000375135.3:c.307+100G>T | ENSP00000364277.3:n.307+100G>T | |
| NM_004463.2:c.307+100G>T | NP_004454.2:n.307+100G>T | |
| NM_004463.3:c.307+100G>T MANE Select | NP_004454.2:n.307+100G>T |