Linked Data
gnomAD v4:
17-4898484-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898484G>T , CM000679.2:g.4898484G>T | GRCh38 |
| NC_000017.10:g.4801779G>T , CM000679.1:g.4801779G>T | GRCh37 |
| NC_000017.9:g.4742558G>T | NCBI36 |
| NG_008029.2:g.9592C>A | |
| NG_028005.1:g.70145G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*252C>A MANE Select | ENSP00000497829.1:n.*252C>A | |
| ENST00000649830.1:c.*370C>A | ENSP00000496907.1:n.*370C>A | |
| ENST00000652550.1:n.1460C>A | ||
| ENST00000293780.4:c.*252C>A | ENSP00000293780.4:n.*252C>A | |
| ENST00000572438.1:n.1420C>A | ||
| NM_000080.3:c.*252C>A | NP_000071.1:n.*252C>A | |
| NM_000080.4:c.*252C>A MANE Select | NP_000071.1:n.*252C>A | |
| XM_017024115.1:c.*252C>A | XP_016879604.1:n.*252C>A |