Linked Data
ClinVar Variation Id:
403724
ClinVar RCV Id:
RCV000469192
dbSNP Id:
rs1060499834
gnomAD v2:
2-31805760-G-A
gnomAD v4:
2-31580690-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31580690G>A , CM000664.2:g.31580690G>A | GRCh38 |
| NC_000002.11:g.31805760G>A , CM000664.1:g.31805760G>A | GRCh37 |
| NC_000002.10:g.31659264G>A | NCBI36 |
| NG_008365.1:g.5282C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.211C>T MANE Select | ENSP00000477587.1:p.Gln71Ter | |
| ENST00000622030.1:c.211C>T | ENSP00000477587.1:p.Gln71Ter | |
| NM_000348.3:c.211C>T | NP_000339.2:p.Gln71Ter | |
| XM_011533068.1:c.211C>T | XP_011531370.1:p.Gln71Ter | |
| XM_011533070.1:c.27-46924C>T | XP_011531372.1:n.27-46924C>T | |
| XM_011533071.1:c.27-46924C>T | XP_011531373.1:n.27-46924C>T | |
| XM_011533072.1:c.27-46924C>T | XP_011531374.1:n.27-46924C>T | |
| XM_011533072.2:c.27-46924C>T | XP_011531374.1:n.27-46924C>T | |
| NM_000348.4:c.211C>T MANE Select | NP_000339.2:p.Gln71Ter |