Linked Data
dbSNP Id:
rs1419690127
gnomAD v2:
X-66942737-G-A
gnomAD v4:
X-67722895-G-A
COSMIC:
COSM93906
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67722895G>A , CM000685.2:g.67722895G>A | GRCh38 |
| NC_000023.10:g.66942737G>A , CM000685.1:g.66942737G>A | GRCh37 |
| NC_000023.9:g.66859462G>A | NCBI36 |
| NG_009014.2:g.183864G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.*866G>A | ENSP00000379358.4:n.*866G>A | |
| ENST00000374690.9:c.2518G>A MANE Select | ENSP00000363822.3:p.Asp840Asn | |
| ENST00000396043.3:c.1145G>A | ENSP00000379358.3:n.1145G>A | |
| ENST00000396044.8:c.2174-791G>A | ENSP00000379359.3:n.2174-791G>A | |
| ENST00000612452.5:c.2518G>A | ENSP00000484033.2:p.Asp840Asn | |
| ENST00000374690.7:c.2518G>A | ENSP00000363822.3:p.Asp840Asn | |
| ENST00000396043.2:c.922G>A | ENSP00000379358.2:p.Asp308Asn | |
| ENST00000396044.7:c.2174-791G>A | ENSP00000379359.3:n.2174-791G>A | |
| ENST00000612452.4:c.1969G>A | ENSP00000484033.1:p.Asp657Asn | |
| NM_000044.3:c.2518G>A | NP_000035.2:p.Asp840Asn | |
| NM_001011645.2:c.922G>A | NP_001011645.1:p.Asp308Asn | |
| NM_000044.4:c.2518G>A | NP_000035.2:p.Asp840Asn | |
| NM_001011645.3:c.922G>A | NP_001011645.1:p.Asp308Asn | |
| NM_000044.6:c.2518G>A MANE Select | NP_000035.2:p.Asp840Asn |