Linked Data
ClinVar Variation Id:
1433329
dbSNP Id:
rs1214785817
gnomAD v2:
15-73660121-G-A
gnomAD v4:
15-73367780-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367780G>A , CM000677.2:g.73367780G>A | GRCh38 |
| NC_000015.9:g.73660121G>A , CM000677.1:g.73660121G>A | GRCh37 |
| NC_000015.8:g.71447174G>A | NCBI36 |
| NG_009063.1:g.6485C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.491C>T MANE Select | ENSP00000261917.3:p.Ser164Leu | |
| ENST00000261917.3:c.491C>T | ENSP00000261917.3:p.Ser164Leu | |
| NM_005477.2:c.491C>T | NP_005468.1:p.Ser164Leu | |
| NM_005477.3:c.491C>T MANE Select | NP_005468.1:p.Ser164Leu |