Linked Data
ClinVar Variation Id:
2505783
ClinVar RCV Id:
RCV003236015
dbSNP Id:
rs947804085
gnomAD v4:
12-115997024-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115997024G>T , CM000674.2:g.115997024G>T | GRCh38 |
| NC_000012.11:g.116434829G>T , CM000674.1:g.116434829G>T | GRCh37 |
| NC_000012.10:g.114919212G>T | NCBI36 |
| NG_023366.1:g.285163C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.2776C>A MANE Select | ENSP00000281928.3:p.Pro926Thr | |
| ENST00000548743.2:c.2746C>A | ENSP00000448553.2:p.Pro916Thr | |
| ENST00000549786.2:c.2204C>A | ||
| ENST00000647927.1:n.3149C>A | ||
| ENST00000648173.1:n.1571C>A | ||
| ENST00000648379.1:n.1144C>A | ||
| ENST00000648737.1:n.2540C>A | ||
| ENST00000648916.1:n.787C>A | ||
| ENST00000649607.1:c.960C>A | ||
| ENST00000650226.1:c.2776C>A | ENSP00000496981.1:p.Pro926Thr | |
| ENST00000281928.7:c.2776C>A | ENSP00000281928.3:p.Pro926Thr | |
| NM_015335.4:c.2776C>A | NP_056150.1:p.Pro926Thr | |
| XM_011538080.1:c.2776C>A | XP_011536382.1:p.Pro926Thr | |
| XM_011538081.1:c.2773C>A | XP_011536383.1:p.Pro925Thr | |
| XM_011538082.1:c.2746C>A | XP_011536384.1:p.Pro916Thr | |
| XM_011538080.2:c.2776C>A | XP_011536382.1:p.Pro926Thr | |
| XM_011538081.2:c.2773C>A | XP_011536383.1:p.Pro925Thr | |
| XM_011538082.2:c.2746C>A | XP_011536384.1:p.Pro916Thr | |
| XM_017019090.1:c.2773C>A | XP_016874579.1:p.Pro925Thr | |
| NM_015335.5:c.2776C>A MANE Select | NP_056150.1:p.Pro926Thr |