Linked Data
gnomAD v4:
X-78118163-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78118163C>G , CM000685.2:g.78118163C>G | GRCh38 |
| NC_000023.10:g.77373660C>G , CM000685.1:g.77373660C>G | GRCh37 |
| NC_000023.9:g.77260316C>G | NCBI36 |
| NG_008862.1:g.18995C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.634C>G MANE Select | ENSP00000362413.4:p.Leu212Val | |
| ENST00000644362.1:c.550C>G | ENSP00000496140.1:p.Leu184Val | |
| ENST00000373316.4:c.634C>G | ENSP00000362413.4:p.Leu212Val | |
| ENST00000491291.1:n.626C>G | ||
| NM_000291.3:c.634C>G | NP_000282.1:p.Leu212Val | |
| NM_000291.4:c.634C>G MANE Select | NP_000282.1:p.Leu212Val |