Linked Data
ClinVar Variation Id:
2973476
ClinVar RCV Id:
RCV003830570
dbSNP Id:
rs143446525
ExAC:
11:102826434 T / C
gnomAD v2:
11-102826434-T-C
gnomAD v3:
11-102955705-T-C
gnomAD v4:
11-102955705-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102955705T>C , CM000673.2:g.102955705T>C | GRCh38 |
| NC_000011.9:g.102826434T>C , CM000673.1:g.102826434T>C | GRCh37 |
| NC_000011.8:g.102331644T>C | NCBI36 |
| NG_021404.1:g.5030A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260302.8:c.1A>G MANE Select | ENSP00000260302.3:p.Met1Val | |
| ENST00000260302.7:c.1A>G | ENSP00000260302.3:p.Met1Val | |
| ENST00000340273.4:c.1A>G | ENSP00000339672.4:p.Met1Val | |
| ENST00000615555.4:c.1A>G | ENSP00000482883.1:p.Met1Val | |
| NM_002427.3:c.1A>G | NP_002418.1:p.Met1Val | |
| NM_002427.4:c.1A>G MANE Select | NP_002418.1:p.Met1Val |