Linked Data
ClinVar Variation Id:
2361893
ClinVar RCV Id:
RCV002980651
dbSNP Id:
rs371521134
ExAC:
17:39780549 G / T
gnomAD v2:
17-39780549-G-T
gnomAD v3:
17-41624297-G-T
gnomAD v4:
17-41624297-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624297G>T , CM000679.2:g.41624297G>T | GRCh38 |
| NC_000017.10:g.39780549G>T , CM000679.1:g.39780549G>T | GRCh37 |
| NC_000017.9:g.37034075G>T | NCBI36 |
| NG_008625.1:g.5334C>A | |
| NG_009090.2:g.167416C>A , LRG_401:g.167416C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.213C>A MANE Select | ENSP00000308452.8:p.Ser71Arg | |
| ENST00000311208.12:c.213C>A | ENSP00000308452.8:p.Ser71Arg | |
| ENST00000463128.5:c.-312-91C>A | ENSP00000468672.1:n.-312-91C>A | |
| ENST00000491673.1:n.279C>A | ||
| ENST00000540235.5:c.8C>A | ENSP00000441751.2:p.Ala3Glu | |
| ENST00000577817.3:c.168C>A | ENSP00000467418.1:p.Ser56Arg | |
| NM_000422.2:c.213C>A | NP_000413.1:p.Ser71Arg | |
| NM_000422.3:c.213C>A MANE Select | NP_000413.1:p.Ser71Arg |