Linked Data
ClinVar Variation Id:
577931
dbSNP Id:
rs1056770175
gnomAD v3:
15-73367892-C-T
gnomAD v4:
15-73367892-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367892C>T , CM000677.2:g.73367892C>T | GRCh38 |
| NC_000015.9:g.73660233C>T , CM000677.1:g.73660233C>T | GRCh37 |
| NC_000015.8:g.71447286C>T | NCBI36 |
| NG_009063.1:g.6373G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.379G>A MANE Select | ENSP00000261917.3:p.Glu127Lys | |
| ENST00000261917.3:c.379G>A | ENSP00000261917.3:p.Glu127Lys | |
| NM_005477.2:c.379G>A | NP_005468.1:p.Glu127Lys | |
| NM_005477.3:c.379G>A MANE Select | NP_005468.1:p.Glu127Lys |