Linked Data
dbSNP Id:
rs782594572
ExAC:
X:154225390 G / A
gnomAD v2:
X-154225390-G-A
gnomAD v3:
X-154997115-G-A
gnomAD v4:
X-154997115-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154997115G>A , CM000685.2:g.154997115G>A | GRCh38 |
| NC_000023.10:g.154225390G>A , CM000685.1:g.154225390G>A | GRCh37 |
| NC_000023.9:g.153878584G>A | NCBI36 |
| NG_011403.1:g.30609C>T | |
| NG_011403.2:g.30609C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.266-20C>T MANE Select | ENSP00000353393.4:n.266-20C>T | |
| ENST00000647125.1:c.*52-20C>T | ENSP00000496062.1:n.*52-20C>T | |
| ENST00000360256.8:c.266-20C>T | ENSP00000353393.4:n.266-20C>T | |
| ENST00000423959.5:c.161-20C>T | ENSP00000409446.1:n.161-20C>T | |
| ENST00000453950.1:c.248-20C>T | ENSP00000389153.1:n.248-20C>T | |
| NM_000132.3:c.266-20C>T | NP_000123.1:n.266-20C>T | |
| XM_011531126.1:c.161-20C>T | XP_011529428.1:n.161-20C>T | |
| NM_000132.4:c.266-20C>T MANE Select | NP_000123.1:n.266-20C>T |