Linked Data
gnomAD v4:
4-4863113-T-C
COSMIC:
COSM734263
MyVariant Identifiers:
chr4:g.4864840T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4863113T>C , CM000666.2:g.4863113T>C | GRCh38 |
| NC_000004.11:g.4864840T>C , CM000666.1:g.4864840T>C | GRCh37 |
| NC_000004.10:g.4915741T>C | NCBI36 |
| NG_008121.1:g.8449T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.882T>C MANE Select | ENSP00000372170.4:p.His294= | |
| ENST00000382723.4:c.882T>C | ENSP00000372170.4:p.His294= | |
| NM_002448.3:c.882T>C MANE Select | NP_002439.2:p.His294= |