Linked Data
ClinVar Variation Id:
312735
ClinVar RCV Id:
RCV000289959
dbSNP Id:
rs563086985
ExAC:
14:20944568 C / T
gnomAD v2:
14-20944568-C-T
gnomAD v3:
14-20476409-C-T
gnomAD v4:
14-20476409-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20476409C>T , CM000676.2:g.20476409C>T | GRCh38 |
| NC_000014.8:g.20944568C>T , CM000676.1:g.20944568C>T | GRCh37 |
| NC_000014.7:g.20014408C>T | NCBI36 |
| NG_009631.1:g.12027C>T , LRG_91:g.12027C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553591.2:c.795C>T | ENSP00000452421.2:p.Ile265= | |
| ENST00000556293.6:n.3101C>T | ||
| ENST00000556754.2:n.4044C>T | ||
| ENST00000557229.6:n.1107C>T | ||
| ENST00000697613.1:c.678C>T | ENSP00000513359.1:p.Ile226= | |
| ENST00000697614.1:c.441C>T | ENSP00000513360.1:p.Ile147= | |
| ENST00000697615.1:n.1506C>T | ||
| ENST00000361505.10:c.678C>T MANE Select | ENSP00000354532.6:p.Ile226= | |
| ENST00000361505.9:c.678C>T | ENSP00000354532.5:p.Ile226= | |
| ENST00000554056.5:n.986C>T | ||
| ENST00000556754.1:n.1895C>T | ||
| NM_000270.3:c.678C>T , LRG_91t1:c.678C>T | NP_000261.2:p.Ile226= | |
| NM_000270.4:c.678C>T MANE Select | NP_000261.2:p.Ile226= |