Linked Data
ClinVar Variation Id:
1289507
ClinVar RCV Id:
RCV001714047
dbSNP Id:
rs632605
gnomAD v2:
11-68215954-G-A
gnomAD v3:
11-68448486-G-A
gnomAD v4:
11-68448486-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68448486G>A , CM000673.2:g.68448486G>A | GRCh38 |
| NC_000011.9:g.68215954G>A , CM000673.1:g.68215954G>A | GRCh37 |
| NC_000011.8:g.67972530G>A | NCBI36 |
| NG_015835.1:g.140847G>A | |
| NG_015835.2:g.140847G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294304.12:c.4587-323G>A MANE Select | ENSP00000294304.6:n.4587-323G>A | |
| ENST00000294304.11:c.4587-323G>A | ENSP00000294304.6:n.4587-323G>A | |
| ENST00000529481.1:n.178-323G>A | ||
| ENST00000529702.1:c.257-323G>A | ||
| ENST00000529993.5:c.*3193-323G>A | ENSP00000436652.1:n.*3193-323G>A | |
| NM_001291902.1:c.2844-323G>A | NP_001278831.1:n.2844-323G>A | |
| NM_002335.3:c.4587-323G>A | NP_002326.2:n.4587-323G>A | |
| XM_005273994.2:c.4701-323G>A | XP_005274051.1:n.4701-323G>A | |
| XM_011545029.1:c.4728-323G>A | XP_011543331.1:n.4728-323G>A | |
| XM_011545030.1:c.4614-323G>A | XP_011543332.1:n.4614-323G>A | |
| XM_011545031.1:c.4744-323G>A | XP_011543333.1:n.4744-323G>A | |
| XR_949925.1:n.4974-323G>A | ||
| XR_949926.1:n.4990-323G>A | ||
| XM_017017735.1:c.2958-323G>A | XP_016873224.1:n.2958-323G>A | |
| XM_017017736.1:c.2241-323G>A | XP_016873225.1:n.2241-323G>A | |
| XR_949925.2:n.4974-323G>A | ||
| XR_949926.2:n.4990-323G>A | ||
| NM_002335.4:c.4587-323G>A MANE Select | NP_002326.2:n.4587-323G>A | |
| NM_001291902.2:c.2844-323G>A | NP_001278831.1:n.2844-323G>A |