Linked Data
dbSNP Id:
rs782097865
ExAC:
X:77378883 G / C
gnomAD v2:
X-77378883-G-C
gnomAD v4:
X-78123386-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78123386G>C , CM000685.2:g.78123386G>C | GRCh38 |
| NC_000023.10:g.77378883G>C , CM000685.1:g.77378883G>C | GRCh37 |
| NC_000023.9:g.77265539G>C | NCBI36 |
| NG_008862.1:g.24218G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.936+12G>C MANE Select | ENSP00000362413.4:n.936+12G>C | |
| ENST00000644362.1:c.852+12G>C | ENSP00000496140.1:n.852+12G>C | |
| ENST00000373316.4:c.936+12G>C | ENSP00000362413.4:n.936+12G>C | |
| NM_000291.3:c.936+12G>C | NP_000282.1:n.936+12G>C | |
| NM_000291.4:c.936+12G>C MANE Select | NP_000282.1:n.936+12G>C |