Linked Data
ClinVar Variation Id:
206561
dbSNP Id:
rs201144044
ExAC:
15:89861908 T / C
gnomAD v2:
15-89861908-T-C
gnomAD v3:
15-89318677-T-C
gnomAD v4:
15-89318677-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318677T>C , CM000677.2:g.89318677T>C | GRCh38 |
| NC_000015.9:g.89861908T>C , CM000677.1:g.89861908T>C | GRCh37 |
| NC_000015.8:g.87662912T>C | NCBI36 |
| NG_008218.1:g.21119A>G | |
| NG_011736.1:g.79715T>C , LRG_500:g.79715T>C | |
| NG_008218.2:g.21119A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.3346A>G | ENSP00000516154.1:p.Met1116Val | |
| ENST00000268124.11:c.3346A>G MANE Select | ENSP00000268124.5:p.Met1116Val | |
| ENST00000530292.3:c.2947A>G | ENSP00000432885.2:p.Met983Val | |
| ENST00000635986.2:c.*416A>G | ENSP00000490653.2:n.*416A>G | |
| ENST00000636774.1:c.*1913A>G | ENSP00000489799.1:n.*1913A>G | |
| ENST00000637238.1:c.2155A>G | ENSP00000490756.1:n.2155A>G | |
| ENST00000637264.1:c.2418A>G | ||
| ENST00000666746.1:c.2923A>G | ||
| ENST00000672071.1:n.3544A>G | ||
| ENST00000672695.1:n.523A>G | ||
| ENST00000672923.2:n.3346A>G | ||
| ENST00000268124.9:c.3346A>G | ENSP00000268124.5:p.Met1116Val | |
| ENST00000442287.6:c.3346A>G | ENSP00000399851.2:p.Met1116Val | |
| ENST00000530292.2:c.430A>G | ENSP00000432885.1:p.Met144Val | |
| ENST00000631044.2:c.*2770A>G | ENSP00000486730.1:n.*2770A>G | |
| NM_001126131.1:c.3346A>G | NP_001119603.1:p.Met1116Val | |
| NM_002693.2:c.3346A>G | NP_002684.1:p.Met1116Val | |
| NM_001126131.2:c.3346A>G | NP_001119603.1:p.Met1116Val | |
| NM_002693.3:c.3346A>G MANE Select | NP_002684.1:p.Met1116Val |