Linked Data
gnomAD v4:
5-175441624-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.175441624T>C , CM000667.2:g.175441624T>C | GRCh38 |
| NC_000005.9:g.174868627T>C , CM000667.1:g.174868627T>C | GRCh37 |
| NC_000005.8:g.174801233T>C | NCBI36 |
| NG_011802.1:g.7537A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393752.3:c.*135A>G MANE Select | ENSP00000377353.1:n.*135A>G | |
| ENST00000393752.2:c.*135A>G | ENSP00000377353.1:n.*135A>G | |
| NM_000794.3:c.*135A>G | NP_000785.1:n.*135A>G | |
| NM_000794.4:c.*135A>G | NP_000785.1:n.*135A>G | |
| NM_000794.5:c.*135A>G MANE Select | NP_000785.1:n.*135A>G |