Linked Data
ClinVar Variation Id:
426283
dbSNP Id:
rs1085307537
gnomAD v2:
15-48826318-G-T
gnomAD v4:
15-48534121-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48534121G>T , CM000677.2:g.48534121G>T | GRCh38 |
| NC_000015.9:g.48826318G>T , CM000677.1:g.48826318G>T | GRCh37 |
| NC_000015.8:g.46613610G>T | NCBI36 |
| NG_008805.2:g.116668C>A , LRG_778:g.116668C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.821C>A | ENSP00000453958.2:p.Pro274His | |
| ENST00000674301.2:c.821C>A | ENSP00000501333.2:p.Pro274His | |
| ENST00000316623.10:c.821C>A MANE Select | ENSP00000325527.5:p.Pro274His | |
| ENST00000316623.9:c.821C>A | ENSP00000325527.5:p.Pro274His | |
| ENST00000537463.6:c.636+3590C>A | ENSP00000440294.2:n.636+3590C>A | |
| NM_000138.4:c.821C>A , LRG_778t1:c.821C>A | NP_000129.3:p.Pro274His | |
| NM_000138.5:c.821C>A MANE Select | NP_000129.3:p.Pro274His |