Linked Data
ClinVar Variation Id:
2198932
ClinVar RCV Id:
RCV003596216
dbSNP Id:
rs567566682
ExAC:
5:147510821 G / A
gnomAD v2:
5-147510821-G-A
gnomAD v3:
5-148131258-G-A
gnomAD v4:
5-148131258-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148131258G>A , CM000667.2:g.148131258G>A | GRCh38 |
| NC_000005.9:g.147510821G>A , CM000667.1:g.147510821G>A | GRCh37 |
| NC_000005.8:g.147491014G>A | NCBI36 |
| NG_009633.1:g.72287G>A , LRG_110:g.72287G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256084.8:c.2965-1G>A MANE Select | ENSP00000256084.7:n.2965-1G>A | |
| ENST00000256084.7:c.2965-1G>A | ENSP00000256084.7:n.2965-1G>A | |
| ENST00000359874.7:c.3055-1G>A | ENSP00000352936.3:n.3055-1G>A | |
| NM_001127698.1:c.3055-1G>A | NP_001121170.1:n.3055-1G>A | |
| NM_006846.3:c.2965-1G>A , LRG_110t1:c.2965-1G>A | NP_006837.2:n.2965-1G>A | |
| XM_011537550.1:c.2998-1G>A | XP_011535852.1:n.2998-1G>A | |
| XM_011537551.1:c.2971-1G>A | XP_011535853.1:n.2971-1G>A | |
| XM_011537551.2:c.2971-1G>A | XP_011535853.1:n.2971-1G>A | |
| NM_001127698.2:c.3055-1G>A | NP_001121170.1:n.3055-1G>A | |
| NM_006846.4:c.2965-1G>A MANE Select | NP_006837.2:n.2965-1G>A |