Linked Data
gnomAD v4:
X-83508515-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83508515G>T , CM000685.2:g.83508515G>T | GRCh38 |
| NC_000023.10:g.82763523G>T , CM000685.1:g.82763523G>T | GRCh37 |
| NC_000023.9:g.82650179G>T | NCBI36 |
| NG_009936.2:g.5255G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644024.2:c.191G>T MANE Select | ENSP00000495996.1:p.Gly64Val | |
| ENST00000373200.4:c.191G>T | ENSP00000362296.2:p.Gly64Val | |
| NM_000307.4:c.191G>T | NP_000298.3:p.Gly64Val | |
| NM_000307.5:c.191G>T MANE Select | NP_000298.3:p.Gly64Val |