Linked Data
ClinVar Variation Id:
1052360
ClinVar RCV Id:
RCV001360522
dbSNP Id:
rs573403001
gnomAD v2:
10-73767769-A-C
gnomAD v3:
10-72008011-A-C
gnomAD v4:
10-72008011-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72008011A>C , CM000672.2:g.72008011A>C | GRCh38 |
| NC_000010.10:g.73767769A>C , CM000672.1:g.73767769A>C | GRCh37 |
| NC_000010.9:g.73437775A>C | NCBI36 |
| NG_012635.1:g.48650A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.980A>C MANE Select | ENSP00000362207.4:p.Asp327Ala | |
| ENST00000373115.4:c.980A>C | ENSP00000362207.4:p.Asp327Ala | |
| NM_004273.4:c.980A>C | NP_004264.2:p.Asp327Ala | |
| XM_006718075.2:c.980A>C | XP_006718138.1:p.Asp327Ala | |
| XM_011540369.1:c.980A>C | XP_011538671.1:p.Asp327Ala | |
| XM_006718075.4:c.980A>C | XP_006718138.1:p.Asp327Ala | |
| XM_011540369.2:c.980A>C | XP_011538671.1:p.Asp327Ala | |
| NM_004273.5:c.980A>C MANE Select | NP_004264.2:p.Asp327Ala |