Linked Data
gnomAD v4:
5-175441620-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.175441620T>G , CM000667.2:g.175441620T>G | GRCh38 |
| NC_000005.9:g.174868623T>G , CM000667.1:g.174868623T>G | GRCh37 |
| NC_000005.8:g.174801229T>G | NCBI36 |
| NG_011802.1:g.7541A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393752.3:c.*139A>C MANE Select | ENSP00000377353.1:n.*139A>C | |
| ENST00000393752.2:c.*139A>C | ENSP00000377353.1:n.*139A>C | |
| NM_000794.3:c.*139A>C | NP_000785.1:n.*139A>C | |
| NM_000794.4:c.*139A>C | NP_000785.1:n.*139A>C | |
| NM_000794.5:c.*139A>C MANE Select | NP_000785.1:n.*139A>C |