Linked Data
gnomAD v4:
6-131851254-T-C
COSMIC:
COSM3173552
MyVariant Identifiers:
chr6:g.132172394T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131851254T>C , CM000668.2:g.131851254T>C | GRCh38 |
| NC_000006.11:g.132172394T>C , CM000668.1:g.132172394T>C | GRCh37 |
| NC_000006.10:g.132214087T>C | NCBI36 |
| NG_008206.1:g.48239T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.543T>C MANE Select | ENSP00000498074.1:p.Ser181= | |
| ENST00000650147.1:c.221T>C | ||
| ENST00000650437.1:c.108+1148T>C | ||
| ENST00000360971.6:c.543T>C | ENSP00000354238.2:p.Ser181= | |
| ENST00000486853.1:n.563T>C | ||
| ENST00000513998.5:c.543T>C | ENSP00000422424.1:p.Ser181= | |
| NM_006208.2:c.543T>C | NP_006199.2:p.Ser181= | |
| NM_006208.3:c.543T>C MANE Select | NP_006199.2:p.Ser181= |