Linked Data
MyVariant Identifiers:
chr7:g.27135019C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095400C>G , CM000669.2:g.27095400C>G | GRCh38 |
| NC_000007.13:g.27135019C>G , CM000669.1:g.27135019C>G | GRCh37 |
| NC_000007.12:g.27101544C>G | NCBI36 |
| NG_011813.1:g.5607G>C | |
| NG_033087.1:g.4307C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643460.2:c.513G>C MANE Select | ENSP00000494260.2:p.Leu171= | |
| ENST00000343060.4:c.513G>C | ENSP00000343246.4:p.Leu171= | |
| ENST00000355633.5:c.355-45G>C | ENSP00000347851.5:n.355-45G>C | |
| NM_005522.4:c.513G>C | NP_005513.1:p.Leu171= | |
| NM_153620.2:c.355-45G>C | NP_705873.2:n.355-45G>C | |
| NM_005522.5:c.513G>C MANE Select | NP_005513.2:p.Leu171= | |
| NM_153620.3:c.355-45G>C | NP_705873.3:n.355-45G>C |