Linked Data
ClinVar Variation Id:
14553
ClinVar RCV Id:
RCV000015654
dbSNP Id:
rs587776814
gnomAD v4:
1-209632777-C-T
PubMed:
PMID:17476356
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209632777C>T , CM000663.2:g.209632777C>T | GRCh38 |
| NC_000001.10:g.209806122C>T , CM000663.1:g.209806122C>T | GRCh37 |
| NC_000001.9:g.207872745C>T | NCBI36 |
| NG_007116.1:g.24699G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356082.9:c.629-1G>A MANE Select | ENSP00000348384.3:n.629-1G>A | |
| ENST00000356082.8:c.629-1G>A | ENSP00000348384.3:n.629-1G>A | |
| ENST00000367030.7:c.629-1G>A | ENSP00000355997.3:n.629-1G>A | |
| ENST00000391911.5:c.629-1G>A | ENSP00000375778.1:n.629-1G>A | |
| NM_000228.2:c.629-1G>A | NP_000219.2:n.629-1G>A | |
| NM_001017402.1:c.629-1G>A | NP_001017402.1:n.629-1G>A | |
| NM_001127641.1:c.629-1G>A | NP_001121113.1:n.629-1G>A | |
| XM_005273124.3:c.629-1G>A | XP_005273181.1:n.629-1G>A | |
| XM_005273124.4:c.629-1G>A | XP_005273181.1:n.629-1G>A | |
| XM_017001272.2:c.437-1G>A | XP_016856761.1:n.437-1G>A | |
| NM_000228.3:c.629-1G>A MANE Select | NP_000219.2:n.629-1G>A | |
| NM_001017402.2:c.629-1G>A | NP_001017402.1:n.629-1G>A |