MyVariant.info:
GRCh37
chr6:g.117086378C>T
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116765215C>T , CM000668.2:g.116765215C>T | GRCh38 |
| NC_000006.11:g.117086378C>T , CM000668.1:g.117086378C>T | GRCh37 |
| NC_000006.10:g.117193071C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368557.6:c.213G>A MANE Select | ENSP00000357545.4:p.Gln71= | |
| ENST00000368557.5:c.213G>A | ENSP00000357545.4:p.Gln71= | |
| NM_001085480.2:c.213G>A | NP_001078949.1:p.Gln71= | |
| NM_001085480.3:c.213G>A MANE Select | NP_001078949.1:p.Gln71= |