Linked Data
ClinVar Variation Id:
619343
dbSNP Id:
rs772737979
ExAC:
15:89860636 C / G
gnomAD v2:
15-89860636-C-G
gnomAD v4:
15-89317405-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89317405C>G , CM000677.2:g.89317405C>G | GRCh38 |
| NC_000015.9:g.89860636C>G , CM000677.1:g.89860636C>G | GRCh37 |
| NC_000015.8:g.87661640C>G | NCBI36 |
| NG_008218.1:g.22391G>C | |
| NG_011736.1:g.78443C>G , LRG_500:g.78443C>G | |
| NG_008218.2:g.22391G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3614G>C | ENSP00000516154.1:p.Gly1205Ala | |
| ENST00000268124.11:c.3614G>C MANE Select | ENSP00000268124.5:p.Gly1205Ala | |
| ENST00000530292.3:c.3314G>C | ENSP00000432885.2:n.3314G>C | |
| ENST00000635986.2:c.*684G>C | ENSP00000490653.2:n.*684G>C | |
| ENST00000636774.1:c.*2218G>C | ENSP00000489799.1:n.*2218G>C | |
| ENST00000637238.1:c.2522G>C | ENSP00000490756.1:n.2522G>C | |
| ENST00000637264.1:c.2626G>C | ||
| ENST00000666746.1:c.3191G>C | ||
| ENST00000672071.1:n.4816G>C | ||
| ENST00000672695.1:n.1393G>C | ||
| ENST00000672923.2:n.3614G>C | ||
| ENST00000268124.9:c.3614G>C | ENSP00000268124.5:p.Gly1205Ala | |
| ENST00000442287.6:c.3614G>C | ENSP00000399851.2:p.Gly1205Ala | |
| ENST00000526671.1:n.424G>C | ||
| ENST00000530292.2:c.797G>C | ENSP00000432885.1:n.797G>C | |
| ENST00000631044.2:c.*3038G>C | ENSP00000486730.1:n.*3038G>C | |
| NM_001126131.1:c.3614G>C | NP_001119603.1:p.Gly1205Ala | |
| NM_002693.2:c.3614G>C | NP_002684.1:p.Gly1205Ala | |
| NM_001126131.2:c.3614G>C | NP_001119603.1:p.Gly1205Ala | |
| NM_002693.3:c.3614G>C MANE Select | NP_002684.1:p.Gly1205Ala |