Linked Data
ClinVar Variation Id:
39014
dbSNP Id:
rs193302864
ExAC:
11:65637447 T / G
gnomAD v2:
11-65637447-T-G
gnomAD v4:
11-65869976-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65869976T>G , CM000673.2:g.65869976T>G | GRCh38 |
| NC_000011.9:g.65637447T>G , CM000673.1:g.65637447T>G | GRCh37 |
| NC_000011.8:g.65394023T>G | NCBI36 |
| NG_012304.2:g.7959A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.608A>C MANE Select | ENSP00000309953.6:p.Asp203Ala | |
| ENST00000307998.10:c.608A>C | ENSP00000309953.6:p.Asp203Ala | |
| ENST00000527969.1:n.585A>C | ||
| ENST00000528176.5:c.608A>C | ENSP00000434151.1:p.Asp203Ala | |
| ENST00000531005.5:n.1602A>C | ||
| ENST00000531972.5:c.608A>C | ENSP00000435295.1:p.Asp203Ala | |
| ENST00000533347.5:c.*420A>C | ENSP00000435823.1:n.*420A>C | |
| NM_016938.4:c.608A>C | NP_058634.4:p.Asp203Ala | |
| NR_037718.1:n.867A>C | ||
| NM_016938.5:c.608A>C MANE Select | NP_058634.4:p.Asp203Ala | |
| NR_037718.2:n.733A>C |