Linked Data
ClinVar Variation Id:
2100051
ClinVar RCV Id:
RCV003025788
dbSNP Id:
rs1424922054
gnomAD v2:
16-58572162-A-G
gnomAD v4:
16-58538258-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58538258A>G , CM000678.2:g.58538258A>G | GRCh38 |
| NC_000016.9:g.58572162A>G , CM000678.1:g.58572162A>G | GRCh37 |
| NC_000016.8:g.57129663A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317147.10:c.5144T>C MANE Select | ENSP00000320949.5:p.Ile1715Thr | |
| ENST00000317147.9:c.5144T>C | ENSP00000320949.5:p.Ile1715Thr | |
| ENST00000563283.1:n.451T>C | ||
| ENST00000567188.5:c.5129T>C | ENSP00000456649.1:p.Ile1710Thr | |
| ENST00000568917.1:c.263T>C | ENSP00000454611.1:p.Ile88Thr | |
| ENST00000569240.5:c.5129T>C | ENSP00000455635.1:p.Ile1710Thr | |
| NM_001265612.1:c.5129T>C | NP_001252541.1:p.Ile1710Thr | |
| NM_016284.4:c.5144T>C | NP_057368.3:p.Ile1715Thr | |
| NR_049763.1:n.5462T>C | ||
| NM_016284.5:c.5144T>C MANE Select | NP_057368.3:p.Ile1715Thr | |
| NM_001265612.2:c.5129T>C | NP_001252541.1:p.Ile1710Thr | |
| NR_049763.2:n.5402T>C |