Linked Data
gnomAD v4:
15-42958083-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42958083T>C , CM000677.2:g.42958083T>C | GRCh38 |
| NC_000015.9:g.43250281T>C , CM000677.1:g.43250281T>C | GRCh37 |
| NC_000015.8:g.41037573T>C | NCBI36 |
| NG_012182.1:g.153006A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.4765A>G MANE Select | ENSP00000290650.4:p.Arg1589Gly | |
| ENST00000290650.8:c.4765A>G | ENSP00000290650.4:p.Arg1589Gly | |
| NM_174916.2:c.4765A>G | NP_777576.1:p.Arg1589Gly | |
| NM_174916.3:c.4765A>G MANE Select | NP_777576.1:p.Arg1589Gly |