Linked Data
ClinVar Variation Id:
430395
ClinVar RCV Id:
RCV000493850
dbSNP Id:
rs144403132
ExAC:
13:110822104 G / T
gnomAD v2:
13-110822104-G-T
gnomAD v4:
13-110169757-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110169757G>T , CM000675.2:g.110169757G>T | GRCh38 |
| NC_000013.10:g.110822104G>T , CM000675.1:g.110822104G>T | GRCh37 |
| NC_000013.9:g.109620105G>T | NCBI36 |
| NG_011544.2:g.142393C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3748C>A MANE Select | ENSP00000364979.4:p.Pro1250Thr | |
| ENST00000375820.8:c.3748C>A | ENSP00000364979.4:p.Pro1250Thr | |
| NM_001845.5:c.3748C>A | NP_001836.3:p.Pro1250Thr | |
| XM_011521048.1:c.3556C>A | XP_011519350.1:p.Pro1186Thr | |
| XM_011521048.2:c.3556C>A | XP_011519350.1:p.Pro1186Thr | |
| NM_001845.6:c.3748C>A MANE Select | NP_001836.3:p.Pro1250Thr |