Linked Data
ClinVar Variation Id:
37249
ClinVar RCV Id:
RCV002513278
dbSNP Id:
rs387907302
gnomAD v4:
9-2717965-C-T
PubMed:
PMID:18235024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2717965C>T , CM000671.2:g.2717965C>T | GRCh38 |
| NC_000009.11:g.2717965C>T , CM000671.1:g.2717965C>T | GRCh37 |
| NC_000009.10:g.2707965C>T | NCBI36 |
| NG_012181.1:g.5440C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382082.4:c.226C>T MANE Select | ENSP00000371514.3:p.Gln76Ter | |
| ENST00000382082.3:c.226C>T | ENSP00000371514.3:p.Gln76Ter | |
| NM_133497.3:c.226C>T | NP_598004.1:p.Gln76Ter | |
| XR_929202.1:n.727C>T | ||
| XR_929203.1:n.727C>T | ||
| NM_133497.4:c.226C>T MANE Select | NP_598004.1:p.Gln76Ter |