Linked Data
ClinVar Variation Id:
2760538
ClinVar RCV Id:
RCV003503208
dbSNP Id:
rs1326209645
gnomAD v2:
1-24124634-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23798144G>A , CM000663.2:g.23798144G>A | GRCh38 |
| NC_000001.10:g.24124634G>A , CM000663.1:g.24124634G>A | GRCh37 |
| NC_000001.9:g.23997221G>A | NCBI36 |
| NG_007068.1:g.7661C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.324C>T MANE Select | ENSP00000483375.1:p.Asn108= | |
| ENST00000374497.7:c.324C>T | ENSP00000363621.3:p.Asn108= | |
| ENST00000418277.5:c.132C>T | ENSP00000414719.1:p.Asn44= | |
| ENST00000425913.5:c.324C>T | ENSP00000393359.1:p.Asn108= | |
| ENST00000429356.5:c.132C>T | ENSP00000398585.1:p.Asn44= | |
| ENST00000445705.1:c.324C>T | ENSP00000398257.1:p.Asn108= | |
| ENST00000459934.5:n.442C>T | ||
| ENST00000467493.5:n.784C>T | ||
| ENST00000470949.5:n.269C>T | ||
| ENST00000481736.5:n.728C>T | ||
| ENST00000486382.1:n.425C>T | ||
| ENST00000617979.4:c.324C>T | ENSP00000483375.1:p.Asn108= | |
| NM_000403.3:c.324C>T | NP_000394.2:p.Asn108= | |
| NM_001008216.1:c.324C>T | NP_001008217.1:p.Asn108= | |
| NM_001127621.1:c.324C>T | NP_001121093.1:p.Asn108= | |
| NM_001008216.2:c.324C>T MANE Select | NP_001008217.1:p.Asn108= | |
| NM_000403.4:c.324C>T | NP_000394.2:p.Asn108= | |
| NM_001127621.2:c.324C>T | NP_001121093.1:p.Asn108= |