Linked Data
gnomAD v4:
1-55063582-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063582T>G , CM000663.2:g.55063582T>G | GRCh38 |
| NC_000001.10:g.55529255T>G , CM000663.1:g.55529255T>G | GRCh37 |
| NC_000001.9:g.55301843T>G | NCBI36 |
| NG_009061.1:g.29036T>G , LRG_275:g.29036T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*417T>G | ENSP00000501161.2:n.*417T>G | |
| ENST00000710286.1:c.2434T>G | ENSP00000518176.1:p.Ter812Gly | |
| ENST00000673903.1:c.1702T>G | ENSP00000501257.1:p.Ter568Gly | |
| ENST00000302118.5:c.2077T>G MANE Select | ENSP00000303208.5:p.Ter693Gly | |
| ENST00000490692.1:n.2623T>G | ||
| NM_174936.3:c.2077T>G , LRG_275t1:c.2077T>G | NP_777596.2:p.Ter693Gly | |
| NR_110451.1:n.1684T>G | ||
| XM_011541193.1:c.1198T>G | XP_011539495.1:p.Ter400Gly | |
| NM_174936.4:c.2077T>G MANE Select | NP_777596.2:p.Ter693Gly | |
| NR_110451.2:n.1684T>G |