Linked Data
MyVariant Identifiers:
chr5:g.127597553G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128261861G>A , CM000667.2:g.128261861G>A | GRCh38 |
| NC_000005.9:g.127597553G>A , CM000667.1:g.127597553G>A | GRCh37 |
| NC_000005.8:g.127625452G>A | NCBI36 |
| NG_008750.1:g.281183C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.8239C>T MANE Select | ENSP00000262464.4:p.Leu2747= | |
| ENST00000262464.8:c.8239C>T | ENSP00000262464.4:p.Leu2747= | |
| ENST00000508053.5:c.8239C>T | ENSP00000424571.1:p.Leu2747= | |
| ENST00000619499.4:c.8236C>T | ENSP00000482132.1:p.Leu2746= | |
| NM_001999.3:c.8239C>T | NP_001990.2:p.Leu2747= | |
| XM_017009228.2:c.8086C>T | XP_016864717.1:p.Leu2696= | |
| NM_001999.4:c.8239C>T MANE Select | NP_001990.2:p.Leu2747= |