Linked Data
ClinVar Variation Id:
2157798
ClinVar RCV Id:
RCV003079669
dbSNP Id:
rs1835426158
gnomAD v3:
8-144053026-T-G
gnomAD v4:
8-144053026-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144053026T>G , CM000670.2:g.144053026T>G | GRCh38 |
| NC_000008.10:g.145107929T>G , CM000670.1:g.145107929T>G | GRCh37 |
| NC_000008.9:g.145179917T>G | NCBI36 |
| NG_032671.1:g.12656A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000618853.5:c.2975A>C MANE Select | ENSP00000480476.1:p.Asp992Ala | |
| ENST00000527993.1:n.461A>C | ||
| ENST00000618853.4:c.2975A>C | ENSP00000480476.1:p.Asp992Ala | |
| NM_017570.4:c.2975A>C | NP_060040.1:p.Asp992Ala | |
| XM_011516960.1:c.3263A>C | XP_011515262.1:p.Asp1088Ala | |
| XM_011516961.1:c.*93A>C | XP_011515263.1:n.*93A>C | |
| XR_001745509.1:n.3350A>C | ||
| NM_017570.5:c.2975A>C MANE Select | NP_060040.1:p.Asp992Ala |