Linked Data
ClinVar Variation Id:
1086624
ClinVar RCV Id:
RCV001404435
dbSNP Id:
rs777256692
gnomAD v4:
12-101753434-G-A
MyVariant Identifiers:
chr12:g.102147212G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101753434G>A , CM000674.2:g.101753434G>A | GRCh38 |
| NC_000012.11:g.102147212G>A , CM000674.1:g.102147212G>A | GRCh37 |
| NC_000012.10:g.100671343G>A | NCBI36 |
| NG_021243.1:g.82434C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3540C>T MANE Select | ENSP00000299314.7:p.Ser1180= | |
| ENST00000299314.11:c.3540C>T | ENSP00000299314.7:p.Ser1180= | |
| ENST00000549738.5:c.438C>T | ENSP00000450161.1:n.438C>T | |
| NM_024312.4:c.3540C>T | NP_077288.2:p.Ser1180= | |
| XM_011538731.1:c.3459C>T | XP_011537033.1:p.Ser1153= | |
| XM_011538731.2:c.3459C>T | XP_011537033.1:p.Ser1153= | |
| XM_017019961.1:c.3324C>T | XP_016875450.1:p.Ser1108= | |
| XM_017019962.2:c.2313C>T | XP_016875451.1:p.Ser771= | |
| NM_024312.5:c.3540C>T MANE Select | NP_077288.2:p.Ser1180= |