Linked Data
ClinVar Variation Id:
794429
ClinVar RCV Id:
RCV001481951
dbSNP Id:
rs775771121
ExAC:
16:31004541 G / A
gnomAD v2:
16-31004541-G-A
gnomAD v3:
16-30993220-G-A
gnomAD v4:
16-30993220-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993220G>A , CM000678.2:g.30993220G>A | GRCh38 |
| NC_000016.9:g.31004541G>A , CM000678.1:g.31004541G>A | GRCh37 |
| NC_000016.8:g.30912042G>A | NCBI36 |
| NG_041829.1:g.22289C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.696C>T MANE Select | ENSP00000215095.5:p.Ile232= | |
| ENST00000565419.2:c.696C>T | ENSP00000455899.1:p.Ile232= | |
| ENST00000215095.9:c.696C>T | ENSP00000215095.5:p.Ile232= | |
| ENST00000565419.1:c.696C>T | ENSP00000455899.1:p.Ile232= | |
| ENST00000569638.5:c.444C>T | ENSP00000457067.1:p.Ile148= | |
| NM_052874.4:c.696C>T | NP_443106.1:p.Ile232= | |
| XM_017022893.1:c.678C>T | XP_016878382.1:p.Ile226= | |
| NM_052874.5:c.696C>T MANE Select | NP_443106.1:p.Ile232= |