Linked Data
ClinVar Variation Id:
619341
ClinVar RCV Id:
RCV000758332
dbSNP Id:
rs758720361
gnomAD v4:
15-89317435-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89317435A>C , CM000677.2:g.89317435A>C | GRCh38 |
| NC_000015.9:g.89860666A>C , CM000677.1:g.89860666A>C | GRCh37 |
| NC_000015.8:g.87661670A>C | NCBI36 |
| NG_008218.1:g.22361T>G | |
| NG_011736.1:g.78473A>C , LRG_500:g.78473A>C | |
| NG_008218.2:g.22361T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3584T>G | ENSP00000516154.1:p.Met1195Arg | |
| ENST00000268124.11:c.3584T>G MANE Select | ENSP00000268124.5:p.Met1195Arg | |
| ENST00000530292.3:c.3284T>G | ENSP00000432885.2:n.3284T>G | |
| ENST00000635986.2:c.*654T>G | ENSP00000490653.2:n.*654T>G | |
| ENST00000636774.1:c.*2188T>G | ENSP00000489799.1:n.*2188T>G | |
| ENST00000637238.1:c.2492T>G | ENSP00000490756.1:n.2492T>G | |
| ENST00000637264.1:c.2596T>G | ||
| ENST00000666746.1:c.3161T>G | ||
| ENST00000672071.1:n.4786T>G | ||
| ENST00000672695.1:n.1363T>G | ||
| ENST00000672923.2:n.3584T>G | ||
| ENST00000268124.9:c.3584T>G | ENSP00000268124.5:p.Met1195Arg | |
| ENST00000442287.6:c.3584T>G | ENSP00000399851.2:p.Met1195Arg | |
| ENST00000526671.1:n.394T>G | ||
| ENST00000530292.2:c.767T>G | ENSP00000432885.1:n.767T>G | |
| ENST00000631044.2:c.*3008T>G | ENSP00000486730.1:n.*3008T>G | |
| NM_001126131.1:c.3584T>G | NP_001119603.1:p.Met1195Arg | |
| NM_002693.2:c.3584T>G | NP_002684.1:p.Met1195Arg | |
| NM_001126131.2:c.3584T>G | NP_001119603.1:p.Met1195Arg | |
| NM_002693.3:c.3584T>G MANE Select | NP_002684.1:p.Met1195Arg |