Linked Data
ClinVar Variation Id:
39081
ClinVar RCV Id:
RCV000032348
dbSNP Id:
rs281864947
gnomAD v2:
12-102224410-G-T
gnomAD v4:
12-101830632-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101830632G>T , CM000674.2:g.101830632G>T | GRCh38 |
| NC_000012.11:g.102224410G>T , CM000674.1:g.102224410G>T | GRCh37 |
| NC_000012.10:g.100748541G>T | NCBI36 |
| NG_021243.1:g.5236C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299314.12:c.44C>A MANE Select | ENSP00000299314.7:p.Ser15Tyr | |
| ENST00000647144.1:n.32C>A | ||
| ENST00000299314.11:c.44C>A | ENSP00000299314.7:p.Ser15Tyr | |
| ENST00000392919.4:c.44C>A | ENSP00000376651.4:p.Ser15Tyr | |
| ENST00000549165.1:c.44C>A | ENSP00000450413.1:p.Ser15Tyr | |
| ENST00000549940.5:c.44C>A | ENSP00000449150.1:p.Ser15Tyr | |
| NM_024312.4:c.44C>A | NP_077288.2:p.Ser15Tyr | |
| XM_006719593.2:c.44C>A | XP_006719656.1:p.Ser15Tyr | |
| XM_006719593.3:c.44C>A | XP_006719656.1:p.Ser15Tyr | |
| XM_017019961.1:c.-106C>A | XP_016875450.1:n.-106C>A | |
| XM_017019962.2:c.-1307C>A | XP_016875451.1:n.-1307C>A | |
| NM_024312.5:c.44C>A MANE Select | NP_077288.2:p.Ser15Tyr |