Linked Data
ClinVar Variation Id:
966923
ClinVar RCV Id:
RCV001241714
dbSNP Id:
rs1170518463
gnomAD v2:
15-73635881-C-T
gnomAD v4:
15-73343540-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73343540C>T , CM000677.2:g.73343540C>T | GRCh38 |
| NC_000015.9:g.73635881C>T , CM000677.1:g.73635881C>T | GRCh37 |
| NC_000015.8:g.71422934C>T | NCBI36 |
| NG_009063.1:g.30725G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.1054G>A MANE Select | ENSP00000261917.3:p.Val352Met | |
| ENST00000261917.3:c.1054G>A | ENSP00000261917.3:p.Val352Met | |
| NM_005477.2:c.1054G>A | NP_005468.1:p.Val352Met | |
| NM_005477.3:c.1054G>A MANE Select | NP_005468.1:p.Val352Met |