MyVariant.info:
GRCh37
chr15:g.100672307C>G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100132102C>G , CM000677.2:g.100132102C>G | GRCh38 |
| NC_000015.9:g.100672307C>G , CM000677.1:g.100672307C>G | GRCh37 |
| NC_000015.8:g.98489830C>G | NCBI36 |
| NG_016287.1:g.214877G>C | |
| NG_016287.2:g.214877G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268070.9:c.1626G>C MANE Select | ENSP00000268070.4:p.Val542= | |
| ENST00000568565.2:c.1626G>C | ENSP00000456161.2:p.Val542= | |
| ENST00000268070.8:c.1626G>C | ENSP00000268070.4:p.Val542= | |
| ENST00000378898.8:n.1307G>C | ||
| NM_139057.2:c.1626G>C | NP_620688.2:p.Val542= | |
| XM_005254872.2:c.1626G>C | XP_005254929.1:p.Val542= | |
| XM_011521312.1:c.1626G>C | XP_011519614.1:p.Val542= | |
| NM_139057.3:c.1626G>C | NP_620688.2:p.Val542= | |
| XM_005254872.3:c.1626G>C | XP_005254929.1:p.Val542= | |
| XM_011521312.2:c.1626G>C | XP_011519614.1:p.Val542= | |
| XM_017021973.2:c.1758G>C | XP_016877462.1:p.Val586= | |
| XM_017021974.1:c.1758G>C | XP_016877463.1:p.Val586= | |
| XM_017021975.1:c.1758G>C | XP_016877464.1:p.Val586= | |
| XM_017021976.1:c.1029G>C | XP_016877465.1:p.Val343= | |
| XM_017021977.1:c.1758G>C | XP_016877466.1:p.Val586= | |
| XM_017021978.1:c.660G>C | XP_016877467.1:p.Val220= | |
| XM_017021979.1:c.438G>C | XP_016877468.1:p.Val146= | |
| XM_017021980.1:c.438G>C | XP_016877469.1:p.Val146= | |
| XM_017021981.1:c.1758G>C | XP_016877470.1:p.Val586= | |
| XM_017021982.1:c.147G>C | XP_016877471.1:p.Val49= | |
| XM_017021983.1:c.27-15089G>C | XP_016877472.1:n.27-15089G>C | |
| XM_017021984.1:c.897G>C | XP_016877473.1:p.Val299= | |
| XR_001751118.1:n.2780G>C | ||
| XR_001751119.1:n.2780G>C | ||
| XR_001751120.1:n.2780G>C | ||
| NM_139057.4:c.1626G>C MANE Select | NP_620688.2:p.Val542= |