Linked Data
ClinVar Variation Id:
427231
ClinVar RCV Id:
RCV000490539
dbSNP Id:
rs1085308033
PubMed:
PMID:28334956
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151018494C>A , CM000663.2:g.151018494C>A | GRCh38 |
| NC_000001.10:g.150990970C>A , CM000663.1:g.150990970C>A | GRCh37 |
| NC_000001.9:g.149257594C>A | NCBI36 |
| NG_052875.1:g.15104C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271620.8:c.160C>A MANE Select | ENSP00000271620.3:p.Pro54Thr | |
| ENST00000650332.1:c.133-63C>A | ENSP00000497847.1:n.133-63C>A | |
| ENST00000271620.7:c.160C>A | ENSP00000271620.3:p.Pro54Thr | |
| ENST00000368935.1:c.-18+590C>A | ENSP00000357931.1:n.-18+590C>A | |
| ENST00000368936.5:c.-212+590C>A | ENSP00000357932.1:n.-212+590C>A | |
| ENST00000368937.5:c.-26-7021C>A | ENSP00000357933.1:n.-26-7021C>A | |
| ENST00000431193.5:c.-27+590C>A | ENSP00000392632.1:n.-27+590C>A | |
| ENST00000450884.5:c.-211-6117C>A | ENSP00000387696.1:n.-211-6117C>A | |
| ENST00000462440.5:n.316-63C>A | ||
| ENST00000467771.5:n.346-63C>A | ||
| ENST00000475722.5:n.326C>A | ||
| NM_001303229.1:c.-212+590C>A | NP_001290158.1:n.-212+590C>A | |
| NM_001303242.1:c.160C>A | NP_001290171.1:p.Pro54Thr | |
| NM_001303243.1:c.-100C>A | NP_001290172.1:n.-100C>A | |
| NM_021222.2:c.160C>A | NP_067045.1:p.Pro54Thr | |
| NR_130130.1:n.282-7021C>A | ||
| NR_130131.1:n.374+590C>A | ||
| NR_130132.1:n.374+590C>A | ||
| NR_130135.1:n.374+590C>A | ||
| XM_005245393.3:c.133-63C>A | XP_005245450.1:n.133-63C>A | |
| XM_005245397.3:c.-27+590C>A | XP_005245454.1:n.-27+590C>A | |
| XM_011509830.1:c.160C>A | XP_011508132.1:p.Pro54Thr | |
| XM_011509831.1:c.-37-63C>A | XP_011508133.1:n.-37-63C>A | |
| XM_011509832.1:c.-211-6117C>A | XP_011508134.1:n.-211-6117C>A | |
| XM_005245393.5:c.133-63C>A | XP_005245450.1:n.133-63C>A | |
| XM_011509832.2:c.-211-6117C>A | XP_011508134.1:n.-211-6117C>A | |
| XM_017001955.2:c.133-63C>A | XP_016857444.1:n.133-63C>A | |
| XM_017001956.1:c.-27+590C>A | XP_016857445.1:n.-27+590C>A | |
| XM_017001957.1:c.-37-63C>A | XP_016857446.1:n.-37-63C>A | |
| NM_021222.3:c.160C>A MANE Select | NP_067045.1:p.Pro54Thr | |
| NM_001303229.2:c.-212+590C>A | NP_001290158.1:n.-212+590C>A | |
| NM_001303242.2:c.160C>A | NP_001290171.1:p.Pro54Thr | |
| NM_001303243.2:c.-100C>A | NP_001290172.1:n.-100C>A | |
| NR_130130.2:n.224-7021C>A | ||
| NR_130131.2:n.316+590C>A | ||
| NR_130132.2:n.316+590C>A | ||
| NR_130135.2:n.316+590C>A |