Linked Data
dbSNP Id:
rs781865423
ExAC:
X:49851367 A / C
gnomAD v2:
X-49851367-A-C
gnomAD v3:
X-50086710-A-C
gnomAD v4:
X-50086710-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50086710A>C , CM000685.2:g.50086710A>C | GRCh38 |
| NC_000023.10:g.49851367A>C , CM000685.1:g.49851367A>C | GRCh37 |
| NC_000023.9:g.49738107A>C | NCBI36 |
| NG_007159.3:g.169095A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376091.8:c.1397A>C MANE Select | ENSP00000365259.3:p.Asp466Ala | |
| ENST00000642383.1:c.647A>C | ENSP00000496353.1:p.Asp216Ala | |
| ENST00000642885.1:c.1187A>C | ENSP00000496632.1:p.Asp396Ala | |
| ENST00000643129.1:c.1684A>C | ||
| ENST00000646398.1:c.*572A>C | ENSP00000495122.1:n.*572A>C | |
| ENST00000307367.2:c.1187A>C | ENSP00000304257.2:p.Asp396Ala | |
| ENST00000376088.7:c.1397A>C | ENSP00000365256.3:p.Asp466Ala | |
| ENST00000376091.7:c.1397A>C | ENSP00000365259.3:p.Asp466Ala | |
| ENST00000376108.7:c.1187A>C | ENSP00000365276.3:p.Asp396Ala | |
| NM_000084.4:c.1187A>C | NP_000075.1:p.Asp396Ala | |
| NM_001127898.3:c.1397A>C | NP_001121370.1:p.Asp466Ala | |
| NM_001127899.3:c.1397A>C | NP_001121371.1:p.Asp466Ala | |
| NM_001282163.1:c.1247A>C | NP_001269092.1:p.Asp416Ala | |
| XM_011543888.1:c.1397A>C | XP_011542190.1:p.Asp466Ala | |
| XM_011543889.1:c.1187A>C | XP_011542191.1:p.Asp396Ala | |
| XM_017029257.1:c.1409A>C | XP_016884746.1:p.Asp470Ala | |
| XM_017029258.1:c.1409A>C | XP_016884747.1:p.Asp470Ala | |
| NM_001127898.4:c.1397A>C MANE Select | NP_001121370.1:p.Asp466Ala | |
| NM_000084.5:c.1187A>C | NP_000075.1:p.Asp396Ala | |
| NM_001127899.4:c.1397A>C | NP_001121371.1:p.Asp466Ala | |
| NM_001282163.2:c.1247A>C | NP_001269092.1:p.Asp416Ala |