Linked Data
ClinVar Variation Id:
213700
dbSNP Id:
rs747798210
ExAC:
1:2238191 A / C
gnomAD v2:
1-2238191-A-C
gnomAD v3:
1-2306752-A-C
gnomAD v4:
1-2306752-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2306752A>C , CM000663.2:g.2306752A>C | GRCh38 |
| NC_000001.10:g.2238191A>C , CM000663.1:g.2238191A>C | GRCh37 |
| NC_000001.9:g.2228051A>C | NCBI36 |
| NG_013084.1:g.83058A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378536.5:c.2174A>C MANE Select | ENSP00000367797.4:p.Glu725Ala | |
| ENST00000378536.4:c.2174A>C | ENSP00000367797.4:p.Glu725Ala | |
| NM_003036.3:c.2174A>C | NP_003027.1:p.Glu725Ala | |
| XM_005244775.2:c.2180A>C | XP_005244832.1:p.Glu727Ala | |
| XM_005244776.3:c.1310A>C | XP_005244833.1:p.Glu437Ala | |
| XM_005244775.3:c.2180A>C | XP_005244832.1:p.Glu727Ala | |
| XM_005244776.4:c.1310A>C | XP_005244833.1:p.Glu437Ala | |
| XM_017002128.1:c.1688A>C | XP_016857617.1:p.Glu563Ala | |
| NM_003036.4:c.2174A>C MANE Select | NP_003027.1:p.Glu725Ala |