Linked Data
dbSNP Id:
rs370020900
ExAC:
X:53436224 G / A
gnomAD v2:
X-53436224-G-A
gnomAD v3:
X-53409293-G-A
gnomAD v4:
X-53409293-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53409293G>A , CM000685.2:g.53409293G>A | GRCh38 |
| NC_000023.10:g.53436224G>A , CM000685.1:g.53436224G>A | GRCh37 |
| NC_000023.9:g.53452949G>A | NCBI36 |
| NG_006988.2:g.18378C>T , LRG_773:g.18378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.1338-24C>T MANE Select | ENSP00000323421.3:n.1338-24C>T | |
| ENST00000674590.1:c.570-24C>T | ENSP00000502626.1:n.570-24C>T | |
| ENST00000675065.1:n.690-24C>T | ||
| ENST00000675504.1:c.1272-24C>T | ENSP00000502524.1:n.1272-24C>T | |
| ENST00000322213.8:c.1338-24C>T | ENSP00000323421.3:n.1338-24C>T | |
| ENST00000375340.10:c.1272-24C>T | ENSP00000364489.7:n.1272-24C>T | |
| NM_001281463.1:c.1272-24C>T , LRG_773t1:c.1272-24C>T | NP_001268392.1:n.1272-24C>T | |
| NM_006306.3:c.1338-24C>T , LRG_773t2:c.1338-24C>T | NP_006297.2:n.1338-24C>T | |
| NM_006306.4:c.1338-24C>T MANE Select | NP_006297.2:n.1338-24C>T |