Linked Data
ClinVar Variation Id:
942829
ClinVar RCV Id:
RCV001212895
dbSNP Id:
rs1788580077
gnomAD v4:
7-19116879-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116879G>A , CM000669.2:g.19116879G>A | GRCh38 |
| NC_000007.13:g.19156502G>A , CM000669.1:g.19156502G>A | GRCh37 |
| NC_000007.12:g.19123027G>A | NCBI36 |
| NG_008114.1:g.5794C>T | |
| NG_008114.2:g.5794C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.443C>T MANE Select | ENSP00000242261.5:p.Thr148Ile | |
| ENST00000242261.5:c.443C>T | ENSP00000242261.5:p.Thr148Ile | |
| ENST00000354571.5:c.240C>T | ||
| ENST00000443687.5:c.46C>T | ||
| NM_000474.3:c.443C>T | NP_000465.1:p.Thr148Ile | |
| XM_011515496.1:c.443C>T | XP_011513798.1:p.Thr148Ile | |
| NR_149001.1:n.794C>T | ||
| NM_000474.4:c.443C>T MANE Select | NP_000465.1:p.Thr148Ile | |
| NR_149001.2:n.758C>T |