Linked Data
gnomAD v4:
1-55063720-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063720T>G , CM000663.2:g.55063720T>G | GRCh38 |
| NC_000001.10:g.55529393T>G , CM000663.1:g.55529393T>G | GRCh37 |
| NC_000001.9:g.55301981T>G | NCBI36 |
| NG_009061.1:g.29174T>G , LRG_275:g.29174T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*555T>G | ENSP00000501161.2:n.*555T>G | |
| ENST00000710286.1:c.*136T>G | ENSP00000518176.1:n.*136T>G | |
| ENST00000673903.1:c.*136T>G | ENSP00000501257.1:n.*136T>G | |
| ENST00000302118.5:c.*136T>G MANE Select | ENSP00000303208.5:n.*136T>G | |
| ENST00000490692.1:n.2761T>G | ||
| NM_174936.3:c.*136T>G , LRG_275t1:c.*136T>G | NP_777596.2:n.*136T>G | |
| NR_110451.1:n.1822T>G | ||
| XM_011541193.1:c.*136T>G | XP_011539495.1:n.*136T>G | |
| NM_174936.4:c.*136T>G MANE Select | NP_777596.2:n.*136T>G | |
| NR_110451.2:n.1822T>G |