Linked Data
ClinVar Variation Id:
370317
ClinVar RCV Id:
RCV000411254
dbSNP Id:
rs1057516396
gnomAD v4:
11-68793363-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68793363G>A , CM000673.2:g.68793363G>A | GRCh38 |
| NC_000011.9:g.68560831G>A , CM000673.1:g.68560831G>A | GRCh37 |
| NC_000011.8:g.68317407G>A | NCBI36 |
| NG_011801.1:g.53569C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265641.10:c.919C>T MANE Select | ENSP00000265641.4:p.Gln307Ter | |
| ENST00000265641.9:c.919C>T | ENSP00000265641.4:p.Gln307Ter | |
| ENST00000376618.6:c.919C>T | ENSP00000365803.2:p.Gln307Ter | |
| ENST00000538994.1:c.175C>T | ENSP00000454332.1:p.Gln59Ter | |
| ENST00000539743.5:c.919C>T | ENSP00000446108.1:p.Gln307Ter | |
| ENST00000540367.5:c.919C>T | ENSP00000439084.1:p.Gln307Ter | |
| NM_001031847.2:c.919C>T | NP_001027017.1:p.Gln307Ter | |
| NM_001876.3:c.919C>T | NP_001867.2:p.Gln307Ter | |
| XM_005273762.1:c.1015C>T | XP_005273819.1:p.Gln339Ter | |
| XM_005273763.1:c.1015C>T | XP_005273820.1:p.Gln339Ter | |
| XM_005273762.3:c.1015C>T | XP_005273819.1:p.Gln339Ter | |
| XM_017017220.1:c.919C>T | XP_016872709.1:p.Gln307Ter | |
| NM_001876.4:c.919C>T MANE Select | NP_001867.2:p.Gln307Ter | |
| NM_001031847.3:c.919C>T | NP_001027017.1:p.Gln307Ter |