Linked Data
ClinVar Variation Id:
206562
ClinVar RCV Id:
RCV000188619
dbSNP Id:
rs764036283
ExAC:
15:89861907 A / G
gnomAD v2:
15-89861907-A-G
gnomAD v3:
15-89318676-A-G
gnomAD v4:
15-89318676-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318676A>G , CM000677.2:g.89318676A>G | GRCh38 |
| NC_000015.9:g.89861907A>G , CM000677.1:g.89861907A>G | GRCh37 |
| NC_000015.8:g.87662911A>G | NCBI36 |
| NG_008218.1:g.21120T>C | |
| NG_011736.1:g.79714A>G , LRG_500:g.79714A>G | |
| NG_008218.2:g.21120T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3347T>C | ENSP00000516154.1:p.Met1116Thr | |
| ENST00000268124.11:c.3347T>C MANE Select | ENSP00000268124.5:p.Met1116Thr | |
| ENST00000530292.3:c.2948T>C | ENSP00000432885.2:p.Met983Thr | |
| ENST00000635986.2:c.*417T>C | ENSP00000490653.2:n.*417T>C | |
| ENST00000636774.1:c.*1914T>C | ENSP00000489799.1:n.*1914T>C | |
| ENST00000637238.1:c.2156T>C | ENSP00000490756.1:n.2156T>C | |
| ENST00000637264.1:c.2419T>C | ||
| ENST00000666746.1:c.2924T>C | ||
| ENST00000672071.1:n.3545T>C | ||
| ENST00000672695.1:n.524T>C | ||
| ENST00000672923.2:n.3347T>C | ||
| ENST00000268124.9:c.3347T>C | ENSP00000268124.5:p.Met1116Thr | |
| ENST00000442287.6:c.3347T>C | ENSP00000399851.2:p.Met1116Thr | |
| ENST00000530292.2:c.431T>C | ENSP00000432885.1:p.Met144Thr | |
| ENST00000631044.2:c.*2771T>C | ENSP00000486730.1:n.*2771T>C | |
| NM_001126131.1:c.3347T>C | NP_001119603.1:p.Met1116Thr | |
| NM_002693.2:c.3347T>C | NP_002684.1:p.Met1116Thr | |
| NM_001126131.2:c.3347T>C | NP_001119603.1:p.Met1116Thr | |
| NM_002693.3:c.3347T>C MANE Select | NP_002684.1:p.Met1116Thr |