Linked Data
dbSNP Id:
rs2780889
gnomAD v2:
1-65298791-A-T
gnomAD v3:
1-64833108-A-T
gnomAD v4:
1-64833108-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833108A>T , CM000663.2:g.64833108A>T | GRCh38 |
| NC_000001.10:g.65298791A>T , CM000663.1:g.65298791A>T | GRCh37 |
| NC_000001.9:g.65071379A>T | NCBI36 |
| NG_023402.1:g.138397T>A | |
| NG_023402.2:g.239639T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294428.8:c.*2123A>T MANE Select | ENSP00000294428.3:n.*2123A>T | |
| ENST00000294428.7:c.*2123A>T | ENSP00000294428.3:n.*2123A>T | |
| ENST00000371072.8:c.*2123A>T | ENSP00000360112.4:n.*2123A>T | |
| NM_018211.3:c.*2123A>T | NP_060681.2:n.*2123A>T | |
| XM_006710738.2:c.*2123A>T | XP_006710801.2:n.*2123A>T | |
| NM_001366165.1:c.*2123A>T | NP_001353094.1:n.*2123A>T | |
| XR_946693.3:n.4542A>T | ||
| NM_018211.4:c.*2123A>T | NP_060681.2:n.*2123A>T | |
| NM_001366165.2:c.*2123A>T MANE Select | NP_001353094.1:n.*2123A>T |