Linked Data
ClinVar Variation Id:
2120805
ClinVar RCV Id:
RCV003059569
dbSNP Id:
rs1355323529
gnomAD v2:
1-68897034-G-T
gnomAD v3:
1-68431351-G-T
gnomAD v4:
1-68431351-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431351G>T , CM000663.2:g.68431351G>T | GRCh38 |
| NC_000001.10:g.68897034G>T , CM000663.1:g.68897034G>T | GRCh37 |
| NC_000001.9:g.68669622G>T | NCBI36 |
| NG_008472.1:g.23609C>A | |
| NG_008472.2:g.23609C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1269C>A MANE Select | ENSP00000262340.5:p.Tyr423Ter | |
| ENST00000262340.5:c.1269C>A | ENSP00000262340.5:p.Tyr423Ter | |
| NM_000329.2:c.1269C>A | NP_000320.1:p.Tyr423Ter | |
| XM_017002027.1:c.993C>A | XP_016857516.1:p.Tyr331Ter | |
| NM_000329.3:c.1269C>A MANE Select | NP_000320.1:p.Tyr423Ter |