Linked Data
dbSNP Id:
rs1247604000
gnomAD v2:
X-68049481-G-T
gnomAD v3:
X-68829638-G-T
gnomAD v4:
X-68829638-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68829638G>T , CM000685.2:g.68829638G>T | GRCh38 |
| NC_000023.10:g.68049481G>T , CM000685.1:g.68049481G>T | GRCh37 |
| NC_000023.9:g.67966206G>T | NCBI36 |
| NG_008887.1:g.5642G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.-139G>T MANE Select | ENSP00000204961.4:n.-139G>T | |
| ENST00000204961.4:c.-139G>T | ENSP00000204961.4:n.-139G>T | |
| NM_004429.4:c.-139G>T | NP_004420.1:n.-139G>T | |
| NM_004429.5:c.-139G>T MANE Select | NP_004420.1:n.-139G>T |