Linked Data
gnomAD v4:
X-54465845-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54465845A>C , CM000685.2:g.54465845A>C | GRCh38 |
| NC_000023.10:g.54492278A>C , CM000685.1:g.54492278A>C | GRCh37 |
| NC_000023.9:g.54509003A>C | NCBI36 |
| NG_008054.1:g.35322T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.1348T>G MANE Select | ENSP00000364277.3:p.Tyr450Asp | |
| ENST00000375135.3:c.1348T>G | ENSP00000364277.3:p.Tyr450Asp | |
| NM_004463.2:c.1348T>G | NP_004454.2:p.Tyr450Asp | |
| NM_004463.3:c.1348T>G MANE Select | NP_004454.2:p.Tyr450Asp |