Linked Data
ClinVar Variation Id:
208030
dbSNP Id:
rs797044824
gnomAD v4:
19-7526869-C-T
COSMIC:
COSM418719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526869C>T , CM000681.2:g.7526869C>T | GRCh38 |
| NC_000019.9:g.7591755C>T , CM000681.1:g.7591755C>T | GRCh37 |
| NC_000019.8:g.7497755C>T | NCBI36 |
| NG_015806.1:g.9260C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.514C>T MANE Select | ENSP00000264079.5:p.Arg172Ter | |
| ENST00000264079.10:c.514C>T | ENSP00000264079.5:p.Arg172Ter | |
| ENST00000394321.9:n.594C>T | ||
| ENST00000596008.1:n.476C>T | ||
| ENST00000598406.1:n.335C>T | ||
| ENST00000601003.1:c.514C>T | ENSP00000469074.1:p.Arg172Ter | |
| NM_020533.2:c.514C>T | NP_065394.1:p.Arg172Ter | |
| NM_020533.3:c.514C>T MANE Select | NP_065394.1:p.Arg172Ter |