Linked Data
ClinVar Variation Id:
16526
ClinVar RCV Id:
RCV000017990
dbSNP Id:
rs121913066
gnomAD v4:
6-6182121-G-T
PubMed:
PMID:7727776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6182121G>T , CM000668.2:g.6182121G>T | GRCh38 |
| NC_000006.11:g.6182354G>T , CM000668.1:g.6182354G>T | GRCh37 |
| NC_000006.10:g.6127353G>T | NCBI36 |
| NG_008107.1:g.143571C>A , LRG_549:g.143571C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264870.8:c.1326C>A MANE Select | ENSP00000264870.3:p.Tyr442Ter | |
| ENST00000264870.7:c.1326C>A | ENSP00000264870.3:p.Tyr442Ter | |
| NM_000129.3:c.1326C>A , LRG_549t1:c.1326C>A | NP_000120.2:p.Tyr442Ter | |
| XM_006715010.2:c.1326C>A | XP_006715073.1:p.Tyr442Ter | |
| XM_011514342.1:c.1488C>A | XP_011512644.1:p.Tyr496Ter | |
| NM_000129.4:c.1326C>A MANE Select | NP_000120.2:p.Tyr442Ter |