Linked Data
dbSNP Id:
rs1426910496
gnomAD v2:
X-82763453-G-C
gnomAD v3:
X-83508445-G-C
gnomAD v4:
X-83508445-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83508445G>C , CM000685.2:g.83508445G>C | GRCh38 |
| NC_000023.10:g.82763453G>C , CM000685.1:g.82763453G>C | GRCh37 |
| NC_000023.9:g.82650109G>C | NCBI36 |
| NG_009936.2:g.5185G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644024.2:c.121G>C MANE Select | ENSP00000495996.1:p.Asp41His | |
| ENST00000373200.4:c.121G>C | ENSP00000362296.2:p.Asp41His | |
| NM_000307.4:c.121G>C | NP_000298.3:p.Asp41His | |
| NM_000307.5:c.121G>C MANE Select | NP_000298.3:p.Asp41His |