Linked Data
ClinVar Variation Id:
2173561
ClinVar RCV Id:
RCV002574640
dbSNP Id:
rs1291155223
gnomAD v2:
15-89861906-C-G
gnomAD v4:
15-89318675-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318675C>G , CM000677.2:g.89318675C>G | GRCh38 |
| NC_000015.9:g.89861906C>G , CM000677.1:g.89861906C>G | GRCh37 |
| NC_000015.8:g.87662910C>G | NCBI36 |
| NG_008218.1:g.21121G>C | |
| NG_011736.1:g.79713C>G , LRG_500:g.79713C>G | |
| NG_008218.2:g.21121G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3348G>C | ENSP00000516154.1:p.Met1116Ile | |
| ENST00000268124.11:c.3348G>C MANE Select | ENSP00000268124.5:p.Met1116Ile | |
| ENST00000530292.3:c.2949G>C | ENSP00000432885.2:p.Met983Ile | |
| ENST00000635986.2:c.*418G>C | ENSP00000490653.2:n.*418G>C | |
| ENST00000636774.1:c.*1915G>C | ENSP00000489799.1:n.*1915G>C | |
| ENST00000637238.1:c.2157G>C | ENSP00000490756.1:n.2157G>C | |
| ENST00000637264.1:c.2420G>C | ||
| ENST00000666746.1:c.2925G>C | ||
| ENST00000672071.1:n.3546G>C | ||
| ENST00000672695.1:n.525G>C | ||
| ENST00000672923.2:n.3348G>C | ||
| ENST00000268124.9:c.3348G>C | ENSP00000268124.5:p.Met1116Ile | |
| ENST00000442287.6:c.3348G>C | ENSP00000399851.2:p.Met1116Ile | |
| ENST00000530292.2:c.432G>C | ENSP00000432885.1:p.Met144Ile | |
| ENST00000631044.2:c.*2772G>C | ENSP00000486730.1:n.*2772G>C | |
| NM_001126131.1:c.3348G>C | NP_001119603.1:p.Met1116Ile | |
| NM_002693.2:c.3348G>C | NP_002684.1:p.Met1116Ile | |
| NM_001126131.2:c.3348G>C | NP_001119603.1:p.Met1116Ile | |
| NM_002693.3:c.3348G>C MANE Select | NP_002684.1:p.Met1116Ile |