Linked Data
ClinVar Variation Id:
99311
ClinVar RCV Id:
RCV000085664
RCV000314956
RCV000335992
RCV000505175
RCV000407014
RCV000408556
RCV000787778
RCV001005005
RCV000787502
RCV002509209
dbSNP Id:
rs1762111
ExAC:
1:94487490 A / G
gnomAD v2:
1-94487490-A-G
gnomAD v3:
1-94021934-A-G
gnomAD v4:
1-94021934-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021934A>G , CM000663.2:g.94021934A>G | GRCh38 |
| NC_000001.10:g.94487490A>G , CM000663.1:g.94487490A>G | GRCh37 |
| NC_000001.9:g.94260078A>G | NCBI36 |
| NG_009073.1:g.104216T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4685T>C MANE Select | ENSP00000359245.3:p.Ile1562Thr | |
| ENST00000370225.3:c.4685T>C | ENSP00000359245.3:p.Ile1562Thr | |
| ENST00000460514.1:n.179T>C | ||
| ENST00000536513.5:c.1061T>C | ENSP00000439707.2:p.Ile354Thr | |
| NM_000350.2:c.4685T>C | NP_000341.2:p.Ile1562Thr | |
| NM_000350.3:c.4685T>C MANE Select | NP_000341.2:p.Ile1562Thr |