Linked Data
ClinVar Variation Id:
1100259
ClinVar RCV Id:
RCV001422782
dbSNP Id:
rs1952923408
gnomAD v4:
12-101757640-A-G
MyVariant Identifiers:
chr12:g.102151418A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101757640A>G , CM000674.2:g.101757640A>G | GRCh38 |
| NC_000012.11:g.102151418A>G , CM000674.1:g.102151418A>G | GRCh37 |
| NC_000012.10:g.100675549A>G | NCBI36 |
| NG_021243.1:g.78228T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3267T>C MANE Select | ENSP00000299314.7:p.Ser1089= | |
| ENST00000299314.11:c.3267T>C | ENSP00000299314.7:p.Ser1089= | |
| ENST00000549194.1:n.133T>C | ||
| ENST00000549738.5:c.18T>C | ENSP00000450161.1:p.Ser6= | |
| ENST00000550718.1:c.79T>C | ||
| NM_024312.4:c.3267T>C | NP_077288.2:p.Ser1089= | |
| XM_006719593.2:c.3267T>C | XP_006719656.1:p.Ser1089= | |
| XM_011538731.1:c.3186T>C | XP_011537033.1:p.Ser1062= | |
| XM_006719593.3:c.3267T>C | XP_006719656.1:p.Ser1089= | |
| XM_011538731.2:c.3186T>C | XP_011537033.1:p.Ser1062= | |
| XM_017019961.1:c.3051T>C | XP_016875450.1:p.Ser1017= | |
| XM_017019962.2:c.2040T>C | XP_016875451.1:p.Ser680= | |
| NM_024312.5:c.3267T>C MANE Select | NP_077288.2:p.Ser1089= |