Linked Data
ClinVar Variation Id:
2433707
ClinVar RCV Id:
RCV003132631
dbSNP Id:
rs776039984
ExAC:
12:116435007 G / A
gnomAD v2:
12-116435007-G-A
gnomAD v3:
12-115997202-G-A
gnomAD v4:
12-115997202-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115997202G>A , CM000674.2:g.115997202G>A | GRCh38 |
| NC_000012.11:g.116435007G>A , CM000674.1:g.116435007G>A | GRCh37 |
| NC_000012.10:g.114919390G>A | NCBI36 |
| NG_023366.1:g.284985C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.2598C>T MANE Select | ENSP00000281928.3:p.Pro866= | |
| ENST00000548743.2:c.2568C>T | ENSP00000448553.2:p.Pro856= | |
| ENST00000549786.2:c.2026C>T | ||
| ENST00000647927.1:n.2971C>T | ||
| ENST00000648173.1:n.1393C>T | ||
| ENST00000648379.1:n.966C>T | ||
| ENST00000648737.1:n.2362C>T | ||
| ENST00000648916.1:n.609C>T | ||
| ENST00000649607.1:c.782C>T | ||
| ENST00000650226.1:c.2598C>T | ENSP00000496981.1:p.Pro866= | |
| ENST00000281928.7:c.2598C>T | ENSP00000281928.3:p.Pro866= | |
| NM_015335.4:c.2598C>T | NP_056150.1:p.Pro866= | |
| XM_011538080.1:c.2598C>T | XP_011536382.1:p.Pro866= | |
| XM_011538081.1:c.2595C>T | XP_011536383.1:p.Pro865= | |
| XM_011538082.1:c.2568C>T | XP_011536384.1:p.Pro856= | |
| XM_011538080.2:c.2598C>T | XP_011536382.1:p.Pro866= | |
| XM_011538081.2:c.2595C>T | XP_011536383.1:p.Pro865= | |
| XM_011538082.2:c.2568C>T | XP_011536384.1:p.Pro856= | |
| XM_017019090.1:c.2595C>T | XP_016874579.1:p.Pro865= | |
| NM_015335.5:c.2598C>T MANE Select | NP_056150.1:p.Pro866= |