Linked Data
gnomAD v4:
19-18389010-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18389010A>C , CM000681.2:g.18389010A>C | GRCh38 |
| NC_000019.9:g.18499820A>C , CM000681.1:g.18499820A>C | GRCh37 |
| NC_000019.8:g.18360820A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252809.3:c.*75A>C MANE Select | ENSP00000252809.3:n.*75A>C | |
| NM_004864.2:c.*75A>C | NP_004855.2:n.*75A>C | |
| NM_004864.3:c.*75A>C | NP_004855.2:n.*75A>C | |
| XM_024451789.1:c.*75A>C | XP_024307557.1:n.*75A>C | |
| NM_004864.4:c.*75A>C MANE Select | NP_004855.2:n.*75A>C |