Linked Data
ClinVar Variation Id:
136235
ClinVar RCV Id:
RCV000178546
RCV000355311
RCV000296912
RCV000300456
RCV000509567
RCV000404512
RCV001101664
RCV001548778
RCV001548779
RCV003888517
RCV001548886
RCV001548887
dbSNP Id:
rs1762114
ExAC:
1:94471075 A / G
gnomAD v2:
1-94471075-A-G
gnomAD v3:
1-94005519-A-G
gnomAD v4:
1-94005519-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94005519A>G , CM000663.2:g.94005519A>G | GRCh38 |
| NC_000001.10:g.94471075A>G , CM000663.1:g.94471075A>G | GRCh37 |
| NC_000001.9:g.94243663A>G | NCBI36 |
| NG_009073.1:g.120631T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6069T>C MANE Select | ENSP00000359245.3:p.Ile2023= | |
| ENST00000370225.3:c.6069T>C | ENSP00000359245.3:p.Ile2023= | |
| ENST00000465352.1:n.485T>C | ||
| ENST00000484388.1:n.183T>C | ||
| ENST00000536513.5:c.2445T>C | ENSP00000439707.2:p.Ile815= | |
| NM_000350.2:c.6069T>C | NP_000341.2:p.Ile2023= | |
| NM_000350.3:c.6069T>C MANE Select | NP_000341.2:p.Ile2023= |