Linked Data
ClinVar Variation Id:
1480785
ClinVar RCV Id:
RCV002022144
dbSNP Id:
rs1166001117
gnomAD v2:
9-101304149-G-A
gnomAD v3:
9-98541867-G-A
gnomAD v4:
9-98541867-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541867G>A , CM000671.2:g.98541867G>A | GRCh38 |
| NC_000009.11:g.101304149G>A , CM000671.1:g.101304149G>A | GRCh37 |
| NC_000009.10:g.100343970G>A | NCBI36 |
| NG_016426.1:g.172331C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.630+6C>T MANE Select | ENSP00000259455.2:n.630+6C>T | |
| ENST00000637410.1:n.408+6C>T | ||
| ENST00000259455.3:c.630+6C>T | ENSP00000259455.2:n.630+6C>T | |
| ENST00000477471.1:n.417+6C>T | ||
| ENST00000634227.1:n.404+6C>T | ||
| NM_005458.7:c.630+6C>T | NP_005449.5:n.630+6C>T | |
| XM_017015331.2:c.336+6C>T | XP_016870820.1:n.336+6C>T | |
| NM_005458.8:c.630+6C>T MANE Select | NP_005449.5:n.630+6C>T |