Linked Data
ClinVar Variation Id:
42965
dbSNP Id:
rs397516187
ExAC:
14:23889202 C / T
gnomAD v2:
14-23889202-C-T
gnomAD v4:
14-23419993-C-T
COSMIC:
COSM2031805
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23419993C>T , CM000676.2:g.23419993C>T | GRCh38 |
| NC_000014.8:g.23889202C>T , CM000676.1:g.23889202C>T | GRCh37 |
| NC_000014.7:g.22959042C>T | NCBI36 |
| NG_007884.1:g.20669G>A , LRG_384:g.20669G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.3578G>A MANE Select | ENSP00000347507.3:p.Arg1193His | |
| ENST00000355349.3:c.3578G>A | ENSP00000347507.3:p.Arg1193His | |
| NM_000257.3:c.3578G>A | NP_000248.2:p.Arg1193His | |
| XM_017021340.1:c.3578G>A | XP_016876829.1:p.Arg1193His | |
| NM_000257.4:c.3578G>A MANE Select | NP_000248.2:p.Arg1193His |