Linked Data
gnomAD v4:
5-63962169-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.63962169C>G , CM000667.2:g.63962169C>G | GRCh38 |
| NC_000005.9:g.63257996C>G , CM000667.1:g.63257996C>G | GRCh37 |
| NC_000005.8:g.63293752C>G | NCBI36 |
| NG_032816.1:g.5124G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323865.5:c.-450G>C MANE Select | ENSP00000316244.4:n.-450G>C | |
| ENST00000506598.1:c.-387-63G>C | ENSP00000423433.1:n.-387-63G>C | |
| NM_000524.3:c.-450G>C | NP_000515.2:n.-450G>C | |
| NM_000524.4:c.-450G>C MANE Select | NP_000515.2:n.-450G>C |