Linked Data
dbSNP Id:
rs748955820
ExAC:
X:38535166 G / C
gnomAD v3:
X-38675912-G-C
gnomAD v4:
X-38675912-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675912G>C , CM000685.2:g.38675912G>C | GRCh38 |
| NC_000023.10:g.38535166G>C , CM000685.1:g.38535166G>C | GRCh37 |
| NC_000023.9:g.38420110G>C | NCBI36 |
| NG_009160.1:g.119436G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.597+52G>C MANE Select | ENSP00000367743.2:n.597+52G>C | |
| ENST00000286824.6:c.648+52G>C | ENSP00000286824.6:n.648+52G>C | |
| ENST00000378482.6:c.597+52G>C | ENSP00000367743.2:n.597+52G>C | |
| ENST00000419600.3:n.541+52G>C | ||
| ENST00000465127.1:c.687+52G>C | ENSP00000417050.1:n.687+52G>C | |
| ENST00000471410.5:c.*623+52G>C | ENSP00000419290.1:n.*623+52G>C | |
| ENST00000475216.5:c.*590+52G>C | ENSP00000418586.1:n.*590+52G>C | |
| NM_004615.3:c.597+52G>C | NP_004606.2:n.597+52G>C | |
| NM_004615.4:c.597+52G>C MANE Select | NP_004606.2:n.597+52G>C |