Linked Data
dbSNP Id:
rs1443218730
gnomAD v2:
1-65298800-G-A
gnomAD v3:
1-64833117-G-A
gnomAD v4:
1-64833117-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833117G>A , CM000663.2:g.64833117G>A | GRCh38 |
| NC_000001.10:g.65298800G>A , CM000663.1:g.65298800G>A | GRCh37 |
| NC_000001.9:g.65071388G>A | NCBI36 |
| NG_023402.1:g.138388C>T | |
| NG_023402.2:g.239630C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294428.8:c.*2132G>A MANE Select | ENSP00000294428.3:n.*2132G>A | |
| ENST00000294428.7:c.*2132G>A | ENSP00000294428.3:n.*2132G>A | |
| ENST00000371072.8:c.*2132G>A | ENSP00000360112.4:n.*2132G>A | |
| NM_018211.3:c.*2132G>A | NP_060681.2:n.*2132G>A | |
| XM_006710738.2:c.*2132G>A | XP_006710801.2:n.*2132G>A | |
| NM_001366165.1:c.*2132G>A | NP_001353094.1:n.*2132G>A | |
| XR_946693.3:n.4551G>A | ||
| NM_018211.4:c.*2132G>A | NP_060681.2:n.*2132G>A | |
| NM_001366165.2:c.*2132G>A MANE Select | NP_001353094.1:n.*2132G>A |