Linked Data
ClinVar Variation Id:
1981890
ClinVar RCV Id:
RCV002794891
dbSNP Id:
rs1025085377
gnomAD v2:
8-145108250-G-A
gnomAD v3:
8-144053347-G-A
gnomAD v4:
8-144053347-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144053347G>A , CM000670.2:g.144053347G>A | GRCh38 |
| NC_000008.10:g.145108250G>A , CM000670.1:g.145108250G>A | GRCh37 |
| NC_000008.9:g.145180238G>A | NCBI36 |
| NG_032671.1:g.12335C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000618853.5:c.2733C>T MANE Select | ENSP00000480476.1:p.Ser911= | |
| ENST00000527993.1:n.140C>T | ||
| ENST00000531027.1:n.366C>T | ||
| ENST00000618853.4:c.2733C>T | ENSP00000480476.1:p.Ser911= | |
| NM_017570.4:c.2733C>T | NP_060040.1:p.Ser911= | |
| XM_011516960.1:c.3021C>T | XP_011515262.1:p.Ser1007= | |
| XM_011516961.1:c.3016C>T | XP_011515263.1:p.Arg1006Trp | |
| XR_001745509.1:n.3108C>T | ||
| NM_017570.5:c.2733C>T MANE Select | NP_060040.1:p.Ser911= |