Linked Data
ClinVar Variation Id:
975242
ClinVar RCV Id:
RCV001251772
dbSNP Id:
rs1639194544
gnomAD v4:
1-23848716-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848716T>C , CM000663.2:g.23848716T>C | GRCh38 |
| NC_000001.10:g.24175206T>C , CM000663.1:g.24175206T>C | GRCh37 |
| NC_000001.9:g.24047793T>C | NCBI36 |
| NG_013346.1:g.24654A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1093A>G MANE Select | ENSP00000363603.3:p.Asn365Asp | |
| ENST00000374479.3:c.1093A>G | ENSP00000363603.3:p.Asn365Asp | |
| NM_000147.4:c.1093A>G | NP_000138.2:p.Asn365Asp | |
| XM_005245821.1:c.718A>G | XP_005245878.1:p.Asn240Asp | |
| XM_011541167.1:c.460A>G | XP_011539469.1:p.Asn154Asp | |
| XM_005245821.3:c.718A>G | XP_005245878.1:p.Asn240Asp | |
| XM_011541167.3:c.460A>G | XP_011539469.1:p.Asn154Asp | |
| XM_017000905.2:c.790A>G | XP_016856394.1:p.Asn264Asp | |
| NM_000147.5:c.1093A>G MANE Select | NP_000138.2:p.Asn365Asp | |
| NR_174379.1:n.1271A>G | ||
| NR_174380.1:n.1320A>G | ||
| NR_174381.1:n.1159A>G | ||
| NR_174382.1:n.1556A>G |