Linked Data
ClinVar Variation Id:
161325
dbSNP Id:
rs367546859
ExAC:
14:23890202 C / T
gnomAD v2:
14-23890202-C-T
gnomAD v3:
14-23420993-C-T
gnomAD v4:
14-23420993-C-T
COSMIC:
COSM240789
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420993C>T , CM000676.2:g.23420993C>T | GRCh38 |
| NC_000014.8:g.23890202C>T , CM000676.1:g.23890202C>T | GRCh37 |
| NC_000014.7:g.22960042C>T | NCBI36 |
| NG_007884.1:g.19669G>A , LRG_384:g.19669G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3301G>A MANE Select | ENSP00000347507.3:p.Gly1101Ser | |
| ENST00000355349.3:c.3301G>A | ENSP00000347507.3:p.Gly1101Ser | |
| NM_000257.3:c.3301G>A | NP_000248.2:p.Gly1101Ser | |
| XR_245686.3:n.3409G>A | ||
| XM_017021340.1:c.3301G>A | XP_016876829.1:p.Gly1101Ser | |
| NM_000257.4:c.3301G>A MANE Select | NP_000248.2:p.Gly1101Ser |