Linked Data
ClinVar Variation Id:
7976
dbSNP Id:
rs121909187
gnomAD v4:
7-19116954-G-T
PubMed:
PMID:11248247
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116954G>T , CM000669.2:g.19116954G>T | GRCh38 |
| NC_000007.13:g.19156577G>T , CM000669.1:g.19156577G>T | GRCh37 |
| NC_000007.12:g.19123102G>T | NCBI36 |
| NG_008114.1:g.5719C>A | |
| NG_008114.2:g.5719C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242261.6:c.368C>A MANE Select | ENSP00000242261.5:p.Ser123Ter | |
| ENST00000242261.5:c.368C>A | ENSP00000242261.5:p.Ser123Ter | |
| ENST00000354571.5:c.165C>A | ||
| NM_000474.3:c.368C>A | NP_000465.1:p.Ser123Ter | |
| XM_011515496.1:c.368C>A | XP_011513798.1:p.Ser123Ter | |
| NR_149001.1:n.719C>A | ||
| NM_000474.4:c.368C>A MANE Select | NP_000465.1:p.Ser123Ter | |
| NR_149001.2:n.683C>A |