Linked Data
ClinVar Variation Id:
1299371
dbSNP Id:
rs770797451
ExAC:
16:71790055 T / C
gnomAD v2:
16-71790055-T-C
gnomAD v4:
16-71756152-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71756152T>C , CM000678.2:g.71756152T>C | GRCh38 |
| NC_000016.9:g.71790055T>C , CM000678.1:g.71790055T>C | GRCh37 |
| NC_000016.8:g.70347556T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299980.9:c.1096A>G MANE Select | ENSP00000299980.4:p.Met366Val | |
| ENST00000299980.8:c.1096A>G | ENSP00000299980.4:p.Met366Val | |
| ENST00000393512.7:c.1105A>G | ENSP00000377148.3:p.Met369Val | |
| ENST00000565009.5:c.*473A>G | ENSP00000457726.1:n.*473A>G | |
| ENST00000565642.5:n.579A>G | ||
| ENST00000566179.1:c.251A>G | ENSP00000454932.1:n.251A>G | |
| ENST00000568327.5:c.*389A>G | ENSP00000454970.1:n.*389A>G | |
| ENST00000569748.5:c.1096A>G | ENSP00000454523.1:p.Met366Val | |
| NM_001030007.1:c.1105A>G | NP_001025178.1:p.Met369Val | |
| NM_001128.5:c.1096A>G | NP_001119.3:p.Met366Val | |
| NM_001030007.2:c.1105A>G | NP_001025178.1:p.Met369Val | |
| NM_001128.6:c.1096A>G MANE Select | NP_001119.3:p.Met366Val |