Linked Data
dbSNP Id:
rs782174083
ExAC:
X:154225228 T / C
gnomAD v2:
X-154225228-T-C
gnomAD v4:
X-154996953-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154996953T>C , CM000685.2:g.154996953T>C | GRCh38 |
| NC_000023.10:g.154225228T>C , CM000685.1:g.154225228T>C | GRCh37 |
| NC_000023.9:g.153878422T>C | NCBI36 |
| NG_011403.1:g.30771A>G | |
| NG_011403.2:g.30771A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.388+20A>G MANE Select | ENSP00000353393.4:n.388+20A>G | |
| ENST00000647125.1:c.*174+20A>G | ENSP00000496062.1:n.*174+20A>G | |
| ENST00000360256.8:c.388+20A>G | ENSP00000353393.4:n.388+20A>G | |
| ENST00000423959.5:c.283+20A>G | ENSP00000409446.1:n.283+20A>G | |
| ENST00000453950.1:c.370+20A>G | ENSP00000389153.1:n.370+20A>G | |
| NM_000132.3:c.388+20A>G | NP_000123.1:n.388+20A>G | |
| XM_011531126.1:c.283+20A>G | XP_011529428.1:n.283+20A>G | |
| NM_000132.4:c.388+20A>G MANE Select | NP_000123.1:n.388+20A>G |