Linked Data
ClinVar Variation Id:
214353
dbSNP Id:
rs766550165
ExAC:
2:207636690 A / G
gnomAD v2:
2-207636690-A-G
gnomAD v3:
2-206771966-A-G
gnomAD v4:
2-206771966-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206771966A>G , CM000664.2:g.206771966A>G | GRCh38 |
| NC_000002.11:g.207636690A>G , CM000664.1:g.207636690A>G | GRCh37 |
| NC_000002.10:g.207344935A>G | NCBI36 |
| NG_008984.1:g.11579A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402774.8:c.1063A>G MANE Select | ENSP00000385990.3:p.Met355Val | |
| ENST00000236980.10:c.1063A>G | ENSP00000236980.6:p.Met355Val | |
| ENST00000402774.7:c.1063A>G | ENSP00000385990.3:p.Met355Val | |
| ENST00000403094.3:c.1063A>G | ENSP00000384929.3:p.Met355Val | |
| ENST00000487777.5:n.1121A>G | ||
| NM_001136193.1:c.1063A>G | NP_001129665.1:p.Met355Val | |
| NM_001136194.1:c.1063A>G | NP_001129666.1:p.Met355Val | |
| NM_014929.3:c.1063A>G | NP_055744.2:p.Met355Val | |
| NM_001136193.2:c.1063A>G MANE Select | NP_001129665.1:p.Met355Val | |
| NM_001136194.2:c.1063A>G | NP_001129666.1:p.Met355Val | |
| NM_014929.4:c.1063A>G | NP_055744.2:p.Met355Val |