Linked Data
ClinVar Variation Id:
2170944
ClinVar RCV Id:
RCV003080804
dbSNP Id:
rs1167601505
gnomAD v3:
8-86671118-G-A
gnomAD v4:
8-86671118-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671118G>A , CM000670.2:g.86671118G>A | GRCh38 |
| NC_000008.10:g.87683346G>A , CM000670.1:g.87683346G>A | GRCh37 |
| NC_000008.9:g.87752462G>A | NCBI36 |
| NG_016980.1:g.77558C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.339-20C>T MANE Select | ENSP00000316605.5:n.339-20C>T | |
| ENST00000680314.1:n.100-20C>T | ||
| ENST00000681746.1:c.339-20C>T | ENSP00000505959.1:n.339-20C>T | |
| ENST00000320005.5:c.339-20C>T | ENSP00000316605.5:n.339-20C>T | |
| NM_019098.4:c.339-20C>T | NP_061971.3:n.339-20C>T | |
| XM_011517138.1:c.-76-20C>T | XP_011515440.1:n.-76-20C>T | |
| XM_011517138.2:c.-76-20C>T | XP_011515440.1:n.-76-20C>T | |
| NM_019098.5:c.339-20C>T MANE Select | NP_061971.3:n.339-20C>T |