Linked Data
ClinVar Variation Id:
351858
dbSNP Id:
rs187399485
gnomAD v2:
5-148382026-T-C
gnomAD v3:
5-149002463-T-C
gnomAD v4:
5-149002463-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149002463T>C , CM000667.2:g.149002463T>C | GRCh38 |
| NC_000005.9:g.148382026T>C , CM000667.1:g.148382026T>C | GRCh37 |
| NC_000005.8:g.148362219T>C | NCBI36 |
| NG_007947.2:g.65712A>G , LRG_269:g.65712A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515425.6:c.*2248A>G MANE Select | ENSP00000423660.1:n.*2248A>G | |
| ENST00000643113.1:c.890A>G | ||
| ENST00000675793.1:c.*7172A>G | ENSP00000502039.1:n.*7172A>G | |
| ENST00000323829.9:c.*5503A>G | ENSP00000313025.5:n.*5503A>G | |
| ENST00000504690.5:c.*12+1263A>G | ENSP00000425627.1:n.*12+1263A>G | |
| ENST00000510350.1:n.231+4418A>G | ||
| NM_024577.3:c.*2248A>G , LRG_269t1:c.*2248A>G | NP_078853.2:n.*2248A>G | |
| NM_024577.4:c.*2248A>G MANE Select | NP_078853.2:n.*2248A>G |