Linked Data
ClinVar Variation Id:
1432720
ClinVar RCV Id:
RCV001944052
dbSNP Id:
rs1450983588
gnomAD v3:
1-216247160-T-G
gnomAD v4:
1-216247160-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216247160T>G , CM000663.2:g.216247160T>G | GRCh38 |
| NC_000001.10:g.216420502T>G , CM000663.1:g.216420502T>G | GRCh37 |
| NC_000001.9:g.214487125T>G | NCBI36 |
| NG_009497.1:g.181237A>C | |
| NG_009497.2:g.181289A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.2234A>C MANE Select | ENSP00000305941.3:p.Glu745Ala | |
| ENST00000674083.1:c.2234A>C | ENSP00000501296.1:p.Glu745Ala | |
| ENST00000307340.7:c.2234A>C | ENSP00000305941.3:p.Glu745Ala | |
| ENST00000366942.3:c.2234A>C | ENSP00000355909.3:p.Glu745Ala | |
| NM_007123.5:c.2234A>C | NP_009054.5:p.Glu745Ala | |
| NM_206933.2:c.2234A>C | NP_996816.2:p.Glu745Ala | |
| NM_206933.3:c.2234A>C | NP_996816.2:p.Glu745Ala | |
| NM_007123.6:c.2234A>C | NP_009054.6:p.Glu745Ala | |
| NM_206933.4:c.2234A>C MANE Select | NP_996816.3:p.Glu745Ala |