Linked Data
gnomAD v4:
20-43460698-T-C
COSMIC:
COSM1026964
MyVariant Identifiers:
chr20:g.42089338T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.43460698T>C , CM000682.2:g.43460698T>C | GRCh38 |
| NC_000020.10:g.42089338T>C , CM000682.1:g.42089338T>C | GRCh37 |
| NC_000020.9:g.41522752T>C | NCBI36 |
| NG_029906.1:g.7835T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244020.5:c.675-5T>C MANE Select | ENSP00000244020.3:n.675-5T>C | |
| ENST00000657241.1:c.654+100T>C | ||
| ENST00000662078.1:c.674+100T>C | ENSP00000499666.1:n.674+100T>C | |
| ENST00000668808.1:c.675-5T>C | ENSP00000499517.1:n.675-5T>C | |
| ENST00000670741.1:c.674+100T>C | ENSP00000499492.1:n.674+100T>C | |
| ENST00000671022.1:n.765-5T>C | ||
| ENST00000244020.4:c.675-5T>C | ENSP00000244020.3:n.675-5T>C | |
| ENST00000483871.6:c.*535-5T>C | ENSP00000433544.1:n.*535-5T>C | |
| NM_006275.5:c.675-5T>C | NP_006266.2:n.675-5T>C | |
| NR_034009.1:n.1113-5T>C | ||
| XR_936608.1:n.1434-5T>C | ||
| XR_936608.2:n.1434-5T>C | ||
| NM_006275.6:c.675-5T>C MANE Select | NP_006266.2:n.675-5T>C | |
| NR_034009.2:n.1081-5T>C |