Linked Data
ClinVar Variation Id:
370698
ClinVar RCV Id:
RCV000409515
dbSNP Id:
rs1057516696
gnomAD v4:
1-97595167-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97595167C>G , CM000663.2:g.97595167C>G | GRCh38 |
| NC_000001.10:g.98060723C>G , CM000663.1:g.98060723C>G | GRCh37 |
| NC_000001.9:g.97833311C>G | NCBI36 |
| NG_008807.2:g.330893G>C , LRG_722:g.330893G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370192.8:c.851-1G>C MANE Select | ENSP00000359211.3:n.851-1G>C | |
| ENST00000370192.7:c.851-1G>C | ENSP00000359211.3:n.851-1G>C | |
| NM_000110.3:c.851-1G>C , LRG_722t1:c.851-1G>C | NP_000101.2:n.851-1G>C | |
| XM_005270562.3:c.851-1G>C | XP_005270619.2:n.851-1G>C | |
| XM_006710397.2:c.851-1G>C | XP_006710460.1:n.851-1G>C | |
| XM_006710397.3:c.851-1G>C | XP_006710460.1:n.851-1G>C | |
| XM_017000507.1:c.740-1G>C | XP_016855996.1:n.740-1G>C | |
| XM_017000508.2:c.356-1G>C | XP_016855997.1:n.356-1G>C | |
| XM_017000509.2:c.356-1G>C | XP_016855998.1:n.356-1G>C | |
| XM_017000510.1:c.356-1G>C | XP_016855999.1:n.356-1G>C | |
| NM_000110.4:c.851-1G>C MANE Select | NP_000101.2:n.851-1G>C |