Linked Data
gnomAD v4:
5-175441454-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.175441454G>A , CM000667.2:g.175441454G>A | GRCh38 |
| NC_000005.9:g.174868457G>A , CM000667.1:g.174868457G>A | GRCh37 |
| NC_000005.8:g.174801063G>A | NCBI36 |
| NG_011802.1:g.7707C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393752.3:c.*305C>T MANE Select | ENSP00000377353.1:n.*305C>T | |
| ENST00000393752.2:c.*305C>T | ENSP00000377353.1:n.*305C>T | |
| NM_000794.3:c.*305C>T | NP_000785.1:n.*305C>T | |
| NM_000794.4:c.*305C>T | NP_000785.1:n.*305C>T | |
| NM_000794.5:c.*305C>T MANE Select | NP_000785.1:n.*305C>T |