Linked Data
ClinVar Variation Id:
187857
ClinVar RCV Id:
RCV000167578
dbSNP Id:
rs781249411
ExAC:
12:57909709 C / A
gnomAD v2:
12-57909709-C-A
gnomAD v4:
12-57515926-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57515926C>A , CM000674.2:g.57515926C>A | GRCh38 |
| NC_000012.11:g.57909709C>A , CM000674.1:g.57909709C>A | GRCh37 |
| NC_000012.10:g.56195976C>A | NCBI36 |
| NG_027674.1:g.9592G>T | |
| NG_034077.1:g.32974C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.2398C>A MANE Select | ENSP00000262027.5:p.Pro800Thr | |
| ENST00000262027.9:c.2398C>A | ENSP00000262027.5:p.Pro800Thr | |
| ENST00000537638.6:c.*690C>A | ENSP00000446168.2:n.*690C>A | |
| ENST00000545888.6:c.*1899C>A | ENSP00000439307.2:n.*1899C>A | |
| ENST00000547665.5:c.194C>A | ||
| ENST00000548944.1:c.134-569C>A | ENSP00000449071.1:n.134-569C>A | |
| ENST00000551172.1:c.161C>A | ||
| ENST00000552499.5:c.163C>A | ENSP00000447335.1:p.Pro55Thr | |
| ENST00000552914.5:c.355C>A | ENSP00000449787.1:p.Pro119Thr | |
| ENST00000628866.2:c.*1899C>A | ENSP00000486738.1:n.*1899C>A | |
| NM_004990.3:c.2398C>A | NP_004981.2:p.Pro800Thr | |
| XM_006719398.2:c.1696C>A | XP_006719461.1:p.Pro566Thr | |
| XM_006719398.4:c.1696C>A | XP_006719461.1:p.Pro566Thr | |
| XR_001748704.2:n.2354C>A | ||
| XR_002957327.1:n.2345C>A | ||
| NM_004990.4:c.2398C>A MANE Select | NP_004981.2:p.Pro800Thr |