Linked Data
dbSNP Id:
rs937660726
gnomAD v4:
13-27924686-G-A
MyVariant Identifiers:
chr13:g.28498823G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924686G>A , CM000675.2:g.27924686G>A | GRCh38 |
| NC_000013.10:g.28498823G>A , CM000675.1:g.28498823G>A | GRCh37 |
| NC_000013.9:g.27396823G>A | NCBI36 |
| NG_008183.1:g.9656G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.837G>A MANE Select | ENSP00000370421.4:p.Pro279= | |
| ENST00000381033.4:c.837G>A | ENSP00000370421.4:p.Pro279= | |
| NM_000209.3:c.837G>A | NP_000200.1:p.Pro279= | |
| NM_000209.4:c.837G>A MANE Select | NP_000200.1:p.Pro279= |