Linked Data
ClinVar Variation Id:
2736250
ClinVar RCV Id:
RCV003516368
dbSNP Id:
rs139590686
gnomAD v4:
15-89321007-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89321007T>C , CM000677.2:g.89321007T>C | GRCh38 |
| NC_000015.9:g.89864238T>C , CM000677.1:g.89864238T>C | GRCh37 |
| NC_000015.8:g.87665242T>C | NCBI36 |
| NG_008218.1:g.18789A>G | |
| NG_008218.2:g.18789A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2740A>G | ENSP00000516154.1:p.Thr914Ala | |
| ENST00000268124.11:c.2740A>G MANE Select | ENSP00000268124.5:p.Thr914Ala | |
| ENST00000530292.3:c.2341A>G | ENSP00000432885.2:p.Thr781Ala | |
| ENST00000635986.2:c.2740A>G | ENSP00000490653.2:p.Thr914Ala | |
| ENST00000636774.1:c.*1307A>G | ENSP00000489799.1:n.*1307A>G | |
| ENST00000637238.1:c.1549A>G | ENSP00000490756.1:n.1549A>G | |
| ENST00000637264.1:c.1812A>G | ||
| ENST00000666746.1:c.2317A>G | ||
| ENST00000670281.1:c.800+955A>G | ENSP00000499709.1:n.800+955A>G | |
| ENST00000672071.1:n.2938A>G | ||
| ENST00000672923.2:n.2682A>G | ||
| ENST00000268124.9:c.2740A>G | ENSP00000268124.5:p.Thr914Ala | |
| ENST00000442287.6:c.2740A>G | ENSP00000399851.2:p.Thr914Ala | |
| ENST00000528881.2:c.337A>G | ||
| ENST00000530715.5:c.186-138A>G | ENSP00000431395.1:n.186-138A>G | |
| ENST00000631044.2:c.*2164A>G | ENSP00000486730.1:n.*2164A>G | |
| NM_001126131.1:c.2740A>G | NP_001119603.1:p.Thr914Ala | |
| NM_002693.2:c.2740A>G | NP_002684.1:p.Thr914Ala | |
| NM_001126131.2:c.2740A>G | NP_001119603.1:p.Thr914Ala | |
| NM_002693.3:c.2740A>G MANE Select | NP_002684.1:p.Thr914Ala |