MyVariant.info:
GRCh37
chr1:g.186064526G>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186095394G>C , CM000663.2:g.186095394G>C | GRCh38 |
| NC_000001.10:g.186064526G>C , CM000663.1:g.186064526G>C | GRCh37 |
| NC_000001.9:g.184331149G>C | NCBI36 |
| NG_011841.1:g.365844G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.10446G>C MANE Select | ENSP00000271588.4:p.Leu3482= | |
| ENST00000271588.8:c.10446G>C | ENSP00000271588.4:p.Leu3482= | |
| NM_031935.2:c.10446G>C | NP_114141.2:p.Leu3482= | |
| XM_011510037.1:c.10161G>C | XP_011508339.1:p.Leu3387= | |
| XM_011510038.1:c.10446G>C | XP_011508340.1:p.Leu3482= | |
| XM_011510039.1:c.10446G>C | XP_011508341.1:p.Leu3482= | |
| XM_011510038.3:c.10446G>C | XP_011508340.1:p.Leu3482= | |
| XM_017002437.1:c.8469G>C | XP_016857926.1:p.Leu2823= | |
| XM_024450118.1:c.*94G>C | XP_024305886.1:n.*94G>C | |
| NM_031935.3:c.10446G>C MANE Select | NP_114141.2:p.Leu3482= |