Linked Data
dbSNP Id:
rs973711361
gnomAD v2:
14-23844900-C-T
gnomAD v3:
14-23375691-C-T
gnomAD v4:
14-23375691-C-T
COSMIC:
COSM292144
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23375691C>T , CM000676.2:g.23375691C>T | GRCh38 |
| NC_000014.8:g.23844900C>T , CM000676.1:g.23844900C>T | GRCh37 |
| NC_000014.7:g.22914740C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397242.3:c.297C>T MANE Select | ENSP00000380417.2:p.Cys99= | |
| ENST00000329715.2:c.345C>T | ENSP00000328111.2:p.Cys115= | |
| ENST00000397242.2:c.297C>T | ENSP00000380417.2:p.Cys99= | |
| NM_022789.3:c.345C>T | NP_073626.1:p.Cys115= | |
| NM_172314.1:c.297C>T | NP_758525.1:p.Cys99= |