Linked Data
dbSNP Id:
rs773050994
ExAC:
X:107821594 A / C
gnomAD v2:
X-107821594-A-C
gnomAD v4:
X-108578364-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108578364A>C , CM000685.2:g.108578364A>C | GRCh38 |
| NC_000023.10:g.107821594A>C , CM000685.1:g.107821594A>C | GRCh37 |
| NC_000023.9:g.107708250A>C | NCBI36 |
| NG_011977.1:g.143441A>C | |
| NG_011977.2:g.143441A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.761A>C MANE Select | ENSP00000331902.7:p.Glu254Ala | |
| ENST00000361603.7:c.761A>C | ENSP00000354505.2:p.Glu254Ala | |
| ENST00000328300.10:c.761A>C | ENSP00000331902.6:p.Glu254Ala | |
| ENST00000361603.6:c.761A>C | ENSP00000354505.2:p.Glu254Ala | |
| NM_000495.4:c.761A>C | NP_000486.1:p.Glu254Ala | |
| NM_033380.2:c.761A>C | NP_203699.1:p.Glu254Ala | |
| XM_005262070.2:c.761A>C | XP_005262127.1:p.Glu254Ala | |
| XM_005262072.3:c.761A>C | XP_005262129.1:p.Glu254Ala | |
| XM_006724616.2:c.761A>C | XP_006724679.1:p.Glu254Ala | |
| XM_011530849.1:c.437A>C | XP_011529151.1:p.Glu146Ala | |
| XM_011530850.1:c.761A>C | XP_011529152.1:p.Glu254Ala | |
| XM_011530849.2:c.776A>C | XP_011529151.2:p.Glu259Ala | |
| XM_017029259.2:c.776A>C | XP_016884748.1:p.Glu259Ala | |
| XM_017029260.1:c.776A>C | XP_016884749.1:p.Glu259Ala | |
| XM_017029261.1:c.776A>C | XP_016884750.1:p.Glu259Ala | |
| XM_017029262.2:c.776A>C | XP_016884751.1:p.Glu259Ala | |
| NM_000495.5:c.761A>C | NP_000486.1:p.Glu254Ala | |
| NM_033380.3:c.761A>C MANE Select | NP_203699.1:p.Glu254Ala |