Linked Data
gnomAD v4:
X-136648376-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136648376C>T , CM000685.2:g.136648376C>T | GRCh38 |
| NC_000023.10:g.135730535C>T , CM000685.1:g.135730535C>T | GRCh37 |
| NC_000023.9:g.135558201C>T | NCBI36 |
| NG_007280.1:g.5200C>T , LRG_141:g.5200C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.128C>T | ENSP00000512122.1:p.Ala43Val | |
| ENST00000695725.1:c.128C>T | ENSP00000512123.1:p.Ala43Val | |
| ENST00000695726.1:n.171C>T | ||
| ENST00000695727.1:n.115C>T | ||
| ENST00000695728.1:n.115C>T | ||
| ENST00000370629.7:c.128C>T MANE Select | ENSP00000359663.2:p.Ala43Val | |
| ENST00000370628.2:c.128C>T | ENSP00000359662.2:p.Ala43Val | |
| ENST00000370629.6:c.128C>T | ENSP00000359663.2:p.Ala43Val | |
| NM_000074.2:c.128C>T , LRG_141t1:c.128C>T | NP_000065.1:p.Ala43Val | |
| NM_000074.3:c.128C>T MANE Select | NP_000065.1:p.Ala43Val |