Linked Data
dbSNP Id:
rs751238986
ExAC:
X:21997049 G / A
gnomAD v2:
X-21997049-G-A
gnomAD v3:
X-21978931-G-A
gnomAD v4:
X-21978931-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21978931G>A , CM000685.2:g.21978931G>A | GRCh38 |
| NC_000023.10:g.21997049G>A , CM000685.1:g.21997049G>A | GRCh37 |
| NC_000023.9:g.21906970G>A | NCBI36 |
| NG_009228.1:g.43208G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404933.7:c.715G>A MANE Select | ENSP00000385746.2:p.Asp239Asn | |
| ENST00000379404.5:c.556G>A | ENSP00000368714.1:p.Asp186Asn | |
| ENST00000404933.6:c.715G>A | ENSP00000385746.2:p.Asp239Asn | |
| NM_001258423.1:c.556G>A | NP_001245352.1:p.Asp186Asn | |
| NM_004595.4:c.715G>A | NP_004586.2:p.Asp239Asn | |
| XM_005274582.1:c.613G>A | XP_005274639.1:p.Asp205Asn | |
| XM_011545568.1:c.613G>A | XP_011543870.1:p.Asp205Asn | |
| XM_005274582.2:c.613G>A | XP_005274639.1:p.Asp205Asn | |
| XM_011545568.2:c.613G>A | XP_011543870.1:p.Asp205Asn | |
| XM_017029753.2:c.715G>A | XP_016885242.1:p.Asp239Asn | |
| XM_017029754.1:c.613G>A | XP_016885243.1:p.Asp205Asn | |
| XM_017029755.1:c.613G>A | XP_016885244.1:p.Asp205Asn | |
| XM_024452427.1:c.613G>A | XP_024308195.1:p.Asp205Asn | |
| NM_004595.5:c.715G>A MANE Select | NP_004586.2:p.Asp239Asn | |
| NM_001258423.2:c.556G>A | NP_001245352.1:p.Asp186Asn |