Linked Data
ClinVar Variation Id:
995162
ClinVar RCV Id:
RCV001289061
dbSNP Id:
rs937660726
gnomAD v2:
13-28498823-G-T
gnomAD v3:
13-27924686-G-T
gnomAD v4:
13-27924686-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924686G>T , CM000675.2:g.27924686G>T | GRCh38 |
| NC_000013.10:g.28498823G>T , CM000675.1:g.28498823G>T | GRCh37 |
| NC_000013.9:g.27396823G>T | NCBI36 |
| NG_008183.1:g.9656G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.837G>T MANE Select | ENSP00000370421.4:p.Pro279= | |
| ENST00000381033.4:c.837G>T | ENSP00000370421.4:p.Pro279= | |
| NM_000209.3:c.837G>T | NP_000200.1:p.Pro279= | |
| NM_000209.4:c.837G>T MANE Select | NP_000200.1:p.Pro279= |