Linked Data
ClinVar Variation Id:
1383730
ClinVar RCV Id:
RCV001924658
dbSNP Id:
rs747955715
ExAC:
17:39780389 G / T
gnomAD v2:
17-39780389-G-T
gnomAD v3:
17-41624137-G-T
gnomAD v4:
17-41624137-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624137G>T , CM000679.2:g.41624137G>T | GRCh38 |
| NC_000017.10:g.39780389G>T , CM000679.1:g.39780389G>T | GRCh37 |
| NC_000017.9:g.37033915G>T | NCBI36 |
| NG_008625.1:g.5494C>A | |
| NG_009090.2:g.167576C>A , LRG_401:g.167576C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.373C>A MANE Select | ENSP00000308452.8:p.Pro125Thr | |
| ENST00000311208.12:c.373C>A | ENSP00000308452.8:p.Pro125Thr | |
| ENST00000463128.5:c.-243C>A | ENSP00000468672.1:n.-243C>A | |
| ENST00000491673.1:n.439C>A | ||
| ENST00000493253.5:n.160C>A | ||
| ENST00000540235.5:c.124C>A | ENSP00000441751.2:p.Pro42Thr | |
| ENST00000577817.3:c.328C>A | ENSP00000467418.1:p.Pro110Thr | |
| NM_000422.2:c.373C>A | NP_000413.1:p.Pro125Thr | |
| NM_000422.3:c.373C>A MANE Select | NP_000413.1:p.Pro125Thr |