Linked Data
ClinVar Variation Id:
2853436
ClinVar RCV Id:
RCV003696036
dbSNP Id:
rs1948871509
gnomAD v3:
2-219060466-A-G
gnomAD v4:
2-219060466-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060466A>G , CM000664.2:g.219060466A>G | GRCh38 |
| NC_000002.11:g.219925188A>G , CM000664.1:g.219925188A>G | GRCh37 |
| NC_000002.10:g.219633432A>G | NCBI36 |
| NG_016741.1:g.5051T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.2T>C MANE Select | ENSP00000295731.5:p.Met1Thr | |
| ENST00000295731.6:c.2T>C | ENSP00000295731.5:p.Met1Thr | |
| NM_002181.3:c.2T>C | NP_002172.2:p.Met1Thr | |
| NM_002181.4:c.2T>C MANE Select | NP_002172.2:p.Met1Thr |