Linked Data
ClinVar Variation Id:
1697963
ClinVar RCV Id:
RCV002269247
dbSNP Id:
rs762913083
ExAC:
1:161310337 G / A
gnomAD v2:
1-161310337-G-A
gnomAD v4:
1-161340547-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161340547G>A , CM000663.2:g.161340547G>A | GRCh38 |
| NC_000001.10:g.161310337G>A , CM000663.1:g.161310337G>A | GRCh37 |
| NC_000001.9:g.159576961G>A | NCBI36 |
| NG_012767.1:g.31172G>A , LRG_317:g.31172G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470743.5:c.*181-47G>A | ENSP00000482902.2:n.*181-47G>A | |
| ENST00000367975.7:c.180-47G>A MANE Select | ENSP00000356953.3:n.180-47G>A | |
| ENST00000342751.8:c.180-47G>A | ENSP00000356952.3:n.180-47G>A | |
| ENST00000367975.6:c.180-47G>A | ENSP00000356953.2:n.180-47G>A | |
| ENST00000392169.6:c.21-47G>A | ENSP00000376009.2:n.21-47G>A | |
| ENST00000432287.6:c.78-47G>A | ENSP00000390558.2:n.78-47G>A | |
| ENST00000470743.4:c.278-47G>A | ||
| ENST00000504963.5:c.*3-47G>A | ENSP00000423929.1:n.*3-47G>A | |
| ENST00000513009.5:c.78-47G>A | ENSP00000423260.1:n.78-47G>A | |
| NM_001035511.1:c.180-47G>A | NP_001030588.1:n.180-47G>A | |
| NM_001035512.1:c.78-47G>A | NP_001030589.1:n.78-47G>A | |
| NM_001035513.1:c.21-47G>A | NP_001030590.1:n.21-47G>A | |
| NM_001278172.1:c.78-47G>A | NP_001265101.1:n.78-47G>A | |
| NM_003001.3:c.180-47G>A , LRG_317t1:c.180-47G>A | NP_002992.1:n.180-47G>A | |
| NR_103459.1:n.237-47G>A | ||
| NM_001035511.2:c.180-47G>A | NP_001030588.1:n.180-47G>A | |
| NM_001035512.2:c.78-47G>A | NP_001030589.1:n.78-47G>A | |
| NM_001035513.2:c.21-47G>A | NP_001030590.1:n.21-47G>A | |
| NM_001278172.2:c.78-47G>A | NP_001265101.1:n.78-47G>A | |
| NM_003001.5:c.180-47G>A MANE Select | NP_002992.1:n.180-47G>A | |
| NR_103459.2:n.232-47G>A |