Linked Data
ClinVar Variation Id:
14551
ClinVar RCV Id:
RCV000015652
dbSNP Id:
rs587776813
PubMed:
PMID:17476356
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209633136A>G , CM000663.2:g.209633136A>G | GRCh38 |
| NC_000001.10:g.209806481A>G , CM000663.1:g.209806481A>G | GRCh37 |
| NC_000001.9:g.207873104A>G | NCBI36 |
| NG_007116.1:g.24340T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356082.9:c.565-3T>C MANE Select | ENSP00000348384.3:n.565-3T>C | |
| ENST00000356082.8:c.565-3T>C | ENSP00000348384.3:n.565-3T>C | |
| ENST00000367030.7:c.565-3T>C | ENSP00000355997.3:n.565-3T>C | |
| ENST00000391911.5:c.565-3T>C | ENSP00000375778.1:n.565-3T>C | |
| NM_000228.2:c.565-3T>C | NP_000219.2:n.565-3T>C | |
| NM_001017402.1:c.565-3T>C | NP_001017402.1:n.565-3T>C | |
| NM_001127641.1:c.565-3T>C | NP_001121113.1:n.565-3T>C | |
| XM_005273124.3:c.565-3T>C | XP_005273181.1:n.565-3T>C | |
| XM_005273124.4:c.565-3T>C | XP_005273181.1:n.565-3T>C | |
| XM_017001272.2:c.373-3T>C | XP_016856761.1:n.373-3T>C | |
| NM_000228.3:c.565-3T>C MANE Select | NP_000219.2:n.565-3T>C | |
| NM_001017402.2:c.565-3T>C | NP_001017402.1:n.565-3T>C |