Linked Data
dbSNP Id:
rs2076531275
gnomAD v4:
17-78223800-G-A
MyVariant Identifiers:
chr17:g.76219881G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78223800G>A , CM000679.2:g.78223800G>A | GRCh38 |
| NC_000017.10:g.76219881G>A , CM000679.1:g.76219881G>A | GRCh37 |
| NC_000017.9:g.73731476G>A | NCBI36 |
| NG_029069.1:g.14605G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350051.8:c.*246G>A MANE Select | ENSP00000324180.4:n.*246G>A | |
| ENST00000301633.8:c.*246G>A | ENSP00000301633.3:n.*246G>A | |
| ENST00000350051.7:c.*246G>A | ENSP00000324180.4:n.*246G>A | |
| ENST00000374948.6:c.*143G>A | ENSP00000364086.1:n.*143G>A | |
| ENST00000589892.1:n.691G>A | ||
| NM_001012270.1:c.*143G>A | NP_001012270.1:n.*143G>A | |
| NM_001012271.1:c.*246G>A | NP_001012271.1:n.*246G>A | |
| NM_001168.2:c.*246G>A | NP_001159.2:n.*246G>A | |
| XR_243654.3:n.877G>A | ||
| XR_934452.1:n.946G>A | ||
| XR_243654.5:n.877G>A | ||
| XR_934452.3:n.946G>A | ||
| NM_001168.3:c.*246G>A MANE Select | NP_001159.2:n.*246G>A | |
| NM_001012270.2:c.*143G>A | NP_001012270.1:n.*143G>A | |
| NM_001012271.2:c.*246G>A | NP_001012271.1:n.*246G>A |