Linked Data
ClinVar Variation Id:
2993229
ClinVar RCV Id:
RCV003850324
dbSNP Id:
rs1214143352
gnomAD v3:
5-177993065-C-A
gnomAD v4:
5-177993065-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177993065C>A , CM000667.2:g.177993065C>A | GRCh38 |
| NC_000005.9:g.177420066C>A , CM000667.1:g.177420066C>A | GRCh37 |
| NC_000005.8:g.177352672C>A | NCBI36 |
| NG_015889.1:g.8178G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.343-18G>T MANE Select | ENSP00000311290.2:n.343-18G>T | |
| NM_006261.4:c.343-18G>T | NP_006252.3:n.343-18G>T | |
| NM_006261.5:c.343-18G>T MANE Select | NP_006252.4:n.343-18G>T |